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1. Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients

Author: Lucas Bouys, Anna Vaczlavik, Anne Jouinot, Patricia Vaduva, Stéphanie Espiard, Guillaume Assié, Rossella Libé, Karine Perlemoine, Bruno Ragazzon, Laurence Guignat, Lionel Groussin, Léopoldine Bricaire, Isadora Pontes Cavalcante, Fidéline Bonnet-Serrano, Hervé Lefebvre, Marie-Laure Raffin-Sanson, Nicolas Chevalier, Philippe Touraine, Christel Jublanc, Camille Vatier, Gérald Raverot, Magalie Haissaguerre, Luigi Maione, Matthias Kroiss, Martin Fassnacht, Sophie Christin-Maitre, Eric Pasmant, Françoise Borson-Chazot, Antoine Tabarin, Marie-Christine Vantyghem, Martin Reincke, Peter Kamenicky, Marie-Odile North, Jérôme Bertherat, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], CHU Lille, Recherche translationnelle sur le diabète - U 1190 (RTD), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Rouen, Normandie Université (NU), Hôpital Ambroise Paré [AP-HP], Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hospices Civils de Lyon (HCL), Hôpital Haut-Lévêque - CHU de Bordeaux (Centre médico chirurgical Magellan), Physiologie et physiopathologie endocriniennes (PHYSENDO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), University Hospital of Würzburg, Klinikum der Universität [München], CHU Saint-Antoine [AP-HP], L B is recipient of research fellowships from the Cancer Research for Personalized Medicine (CARPEM) and the Fondation ARC pour la Recherche contre le Cancer, J B laboratory is supported by the Agence Nationale pour la Recherche grant ANR-18-CE14-0008-01 and the Fondation pour la Recherche Médicale (EQU201903007854). P T, C J, M F, S C M, F B C, M R, P C and J B clinical departments are part the European Reference Network on Rare Endocrine Conditions (Endo-ERN) – Project ID No 739572, and ANR-18-CE14-0008,STEROMICS,Steroïdogénomique de l'hypersécrétion des stéroïdes surrénaliens(2018)
Subjects: Armadillo Domain Proteins, Hyperplasia, Hydrocortisone, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], 71 ARMC5, General Medicine, genetic screening, PBMAH, Endocrinology, Primary Bilateral Macronodular Adrenal Hyperplasia, adrenal tumors, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Adrenal Glands, Humans, Cushing syndrome, tumor suppressor gene, Retrospective Studies
Abstract: Objective Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a heterogeneous disease characterized by adrenal macronodules and variable levels of cortisol excess, with not clearly established clinical diagnostic criteria. It can be caused by ARMC5 germline pathogenic variants. In this study, we aimed to identify predictive criteria for ARMC5 variants. Methods We included 352 consecutive index patients from 12 European centers, sequenced for germline ARMC5 alteration. Clinical, biological and imaging data were collected retrospectively. Results 52 patients (14.8%) carried ARMC5 germline pathogenic variants and showed a more distinct phenotype than non-mutated patients for cortisol excess (24-h urinary free cortisol 2.32 vs 1.11-fold ULN, respectively, P < 0.001) and adrenal morphology (maximal adrenal diameter 104 vs 83 mm, respectively, P < 0.001) and were more often surgically or medically treated (67.9 vs 36.8%, respectively, P < 0.001). ARMC5-mutated patients showed a constant, bilateral adrenal involvement and at least a possible autonomous cortisol secretion (defined by a plasma cortisol after 1 mg dexamethasone suppression above 50 nmol/L), while these criteria were not systematic in WT patients (78.3%). The association of these two criteria holds a 100% sensitivity and a 100% negative predictive value for ARMC5 pathogenic variant. Conclusion We report the largest series of index patients investigated for ARMC5 and confirm that ARMC5 pathogenic variants are associated with a more severe phenotype in most cases. To minimize negative ARMC5 screening, genotyping should be limited to clear bilateral adrenal involvement and autonomous cortisol secretion, with an optimum sensitivity for routine clinical practice. These findings will also help to better define PBMAH diagnostic criteria.
Published: 2023
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2. Reply of the Authors: Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge

Author: Sophie, Christin-Maitre, Jean-Pierre, Siffroi, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique chromosomique [CHU Trousseau], CHU Trousseau [APHP], and Couvet, Sandrine
Subjects: [SDV] Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, Reproductive Medicine, [SDV]Life Sciences [q-bio], Humans, Obstetrics and Gynecology, Female, [SDV.GEN] Life Sciences [q-bio]/Genetics, Primary Ovarian Insufficiency
Abstract: International audience; No abstract available
Published: 2022
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3. Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families

Author: Alexandre Rouen, Eli Rogers, Véronique Kerlan, Brigitte Delemer, Sophie Catteau-Jonard, Yves Reznik, Anne Gompel, Isabelle Cedrin, Anne-Marie Guedj, Virginie Grouthier, Thierry Brue, Catherine Pienkowski, Anne Bachelot, Sandra Chantot-Bastaraud, Alexandra Rousseau, Tabassome Simon, Esther Kott, Jean-Pierre Siffroi, Philippe Touraine, Sophie Christin-Maitre, Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Hopital port Royal, Partenaires INRAE, Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], CHU Saint-Antoine [AP-HP], and Programme Hospitalier de Recherche Clinique AOM08084, NI07022 FAMIOP
Subjects: premature ovarian insufficiency, Genes in POI, [SDV]Life Sciences [q-bio], Menopause, Premature, Obstetrics and Gynecology, Primary Ovarian Insufficiency, hypergonadotropic hypogonadism, whole exome sequencing, Cohort Studies, Fragile X Mental Retardation Protein, Cross-Sectional Studies, primary amenorrhea, Reproductive Medicine, Exome Sequencing, Humans, Female
Abstract: International audience; Objective: To study the diagnostic yield, including variants in genes yet to be incriminated, of whole exome sequencing (WES) in familial cases of premature ovarian insufficiency (POI). Design: Cross-sectional study. Setting: Endocrinology and reproductive medicine teaching hospital departments. Patients: Familial POI cases were recruited as part of a nationwide multicentric cohort. A total of 36 index cases in 36 different families were studied. Fifty-two relatives were available, including 25 with POI and 27 affected who were nonaffected. Karyotype analysis, FMR1 screening, single nucleotide polymorphism array analysis, and WES were performed in all subjects. Interventions: None. Main Outcome Measures: The primary outcome was a molecular etiology, as diagnosed by karyotype, FMR1 screening, single nucleotide polymorphism array, and WES. Results: A likely molecular etiology (pathogenic or likely pathogenic variant) was identified in 18 of 36 index cases (50% diagnostic yield). In 12 families, we found a pathogenic or likely pathogenic variant in a gene previously incriminated in POI, and in 6 families, we found a pathogenic or likely pathogenic variant in new candidate genes. Most of the variants identified were located in genes involved in cell division and meiosis (n = 11) or DNA repair (n = 4). Conclusions: The genetic etiologic diagnosis in POI allows for genetic familial counseling, anticipated pregnancy planning, and ovarian tissue preservation or oocyte preservation. Identifying new genes may lead to future development of therapeutics in reproduction based on disrupted molecular pathways. Clinical Trial Registration Number: NCT 01177891. ((C) 2021 by American Society for Reproductive Medicine.) El resumen esta disponible en Espanol al final del articulo.
Published: 2022
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4. Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)

Author: Régis Coutant, Maud Bidet, Sophie Catteau-Jonard, Geneviève Plu-Bureau, Anne Bachelot, Lise Duranteau, Phillipe Touraine, Aude Brac de la Perriere, Juliane Léger, Justine Hugon-Rodin, Jean-Pierre Siffroi, Jean Victor Blanc, Véronique Kerlan, Michael Grynberg, Micheline Misrahi, Muriel Houang, Sophie Christin-Maitre, Jean Claude Carel, Michel Polak, Charlotte Sonigo, Delphine Zenaty, B. Donadille, Claire Bouvattier, Laïla El-Khattabi, Frédérique Albarel, Nicolas Chevalier, Maria Givony, Rachel Reynaud, Catherine Pienkowski, Couvet, Sandrine, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre de référence des Maladies Endocriniennes Rares de la Croissance [CHU Saint-Antoine AP-HP] (CRMERC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance Publique - Hôpitaux de Marseille (APHM), CHU Pitié-Salpêtrière [AP-HP], Clinique mutualiste La Sagesse, Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Hospices Civils de Lyon (HCL), Hôpital Jeanne de Flandre [Lille], Université Côte d'Azur (UCA), Hôpital Robert Debré, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier Saint-Joseph [Paris], CHU Trousseau [APHP], AP-HP - Hôpital Antoine Béclère [Clamart], Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hôpital Robert Debré Paris, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Necker - Enfants Malades [AP-HP], Hôpital de la Timone [CHU - APHM] (TIMONE), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], and UF de Génétique chromosomique [CHU Trousseau]
Subjects: Adult, Anti-Mullerian Hormone, Pediatrics, medicine.medical_specialty, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Primary ovarian insufficiency, Premature ovarian insufficiency, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Fragile X Mental Retardation Protein, X chromosome, Fragile X Mental Retardation Protein, Endocrinology, Turner syndrome, MESH: Follicle Stimulating Hormone, medicine, Hormonal replacement therapy, Humans, Chemotherapy, MESH: Humans, business.industry, Oocyte donation, MESH: Hormone Replacement Therapy, MESH: Adult, General Medicine, MESH: Primary Ovarian Insufficiency, medicine.disease, FMR1, Radiation therapy, [SDV] Life Sciences [q-bio], MESH: France, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Transgender hormone therapy, Etiology, MESH: Anti-Mullerian Hormone, Female, France, Follicle Stimulating Hormone, business, FMR1 premutation, MESH: Female, Hormone
Abstract: International audience; Premature ovarian insufficiency (POI) is a rare pathology affecting 1-2% of under-40 year-old women, 1 in 1000 under-30 year-olds and 1 in 10,000 under-20 year-olds. There are multiple etiologies, which can be classified as primary (chromosomal, genetic, auto-immune) and secondary or iatrogenic (surgical, or secondary to chemotherapy and/or radiotherapy). Despite important progress in genetics, more than 60% of cases of primary POI still have no identifiable etiology; these cases are known as idiopathic POI. POI is defined by the association of 1 clinical and 1 biological criterion: primary or secondary amenorrhea or spaniomenorrhea of>4 months with onset before 40 year of age, and elevated follicle-stimulating hormone (FSH)>25IU/L on 2 assays at>4 weeks' interval. Estradiol level is low, and anti-Müllerian hormone (AMH) levels have usually collapsed. Initial etiological work-up comprises auto-immune assessment, karyotype, FMR1 premutation screening and gene-panel study. If all of these are normal, the patient and parents may be offered genome-wide analysis under the "France Génomique" project. The term ovarian insufficiency suggests that the dysfunction is not necessarily definitive. In some cases, ovarian function may fluctuate, and spontaneous pregnancy is possible in around 6% of cases. In confirmed POI, hormone replacement therapy is to be recommended at least up to the physiological menopause age of 51 years. Management in a rare diseases center may be proposed.
Published: 2021
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5. Prevalence and progression of aortic dilatation in adult patients with Turner syndrome: a cohort study

Author: Clément Cholet, Nathalie Bourcigaux, Alexandra Rousseau, Laurence Iserin, Mariana Nedelcu, Sophie Christin-Maitre, B. Donadille, Sophie Tuffet, L Monnier-Cholley, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Service de pharmacologie - Dosage de médicaments [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Radiologie [CHU Saint-Antoine], Hôpital Européen Georges Pompidou [APHP] (HEGP), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)
Subjects: Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Aortic Diseases, Heart Valve Diseases, Turner Syndrome, 030209 endocrinology & metabolism, Thyroiditis, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Bicuspid aortic valve, Bicuspid Aortic Valve Disease, Internal medicine, medicine.artery, Turner syndrome, Ascending aorta, Prevalence, Medicine, Humans, Aorta, Aortic dissection, Body surface area, business.industry, Hazard ratio, General Medicine, medicine.disease, 030220 oncology & carcinogenesis, Aortic Valve, Cohort, Cardiology, Disease Progression, cardiovascular system, Female, France, business, Dilatation, Pathologic
Abstract: Objective: Turner syndrome (TS) is a rare disorder affecting 1/2500 female newborn. Aortic dilatation (AD) and aortic dissection represent a major concern in TS. The aims of our study were to describe the aortic root growth, potential aortic dilatation (AD) risk factors and cardiovascular outcomes in a cohort of patients with TS. Methods: Among 204 adult patients included, 197 were studied using a standardized 1.5 Tesla MRI protocol. AD was defined as an aortic diameter ≥20 mm/m2 at the Valsalva sinuses and/or at the ascending aorta, when indexed to body surface area. Results: At baseline, AD was present in 81/197 (41.1%) and 32/197 (16.2%) of patients, at the levels of Valsalva and ascending aorta, respectively. The aortic Valsalva diameter was larger in patients treated for thyroiditis (P < 0.001). Potential risk factors of AD were aging (P < 0.001) and the presence of bicuspid aortic valve (BAV) (P = 0.002). The hazard ratio (HR) of AD occurrence in the presence of BAV was 2.2 (95% CI: 1.33–3.71). After a median follow-up period of 5.1 years (n = 143), AD was present in 58/143 (40.6%) and 25/143 (17.5%) of patients at the levels of Valsalva and ascending aorta, respectively. The median aortic growth of the Valsalva sinuses remained stable. At the ascending aorta, it increased by 0.14 ± 0.61 mm/year. Only one aortic-related death was observed. Conclusion: AD is common in adult patients with TS. However, our results are rather reassuring, as the median aortic diameters remained stable after 5.1 years and few aortic events were observed.
Published: 2020
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6. Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome

Author: N Bourcigaux, A. Khodawardi, Jean-Pierre Siffroi, A. Graff, Sophie Christin-Maitre, Camille Vatier, M.C. Villy, A. Borgel, B. Donadille, H. Morel, Sorbonne Université (SU), Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique chromosomique [CHU Trousseau], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], and Couvet, Sandrine
Subjects: MESH: Mouth Mucosa, [SDV]Life Sciences [q-bio], Buccal swab, blood karyotype, Turner Syndrome, [SDV.GEN] Life Sciences [q-bio]/Genetics, Cohort Studies, 0302 clinical medicine, Turner syndrome, Medicine, X/46, Prospective Studies, MESH: Cohort Studies, Ovarian Neoplasms, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Mosaicism, Rehabilitation, Obstetrics and Gynecology, [SDV] Life Sciences [q-bio], MESH: Ovarian Neoplasms, buccal cells FISH, Cohort, Female, MESH: Mosaicism, Cohort study, Adult, medicine.medical_specialty, MESH: Turner Syndrome, Urinary system, Gonadoblastoma, 030209 endocrinology & metabolism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 03 medical and health sciences, Internal medicine, Humans, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, business.industry, Mouth Mucosa, Turner’s syndrome, MESH: Adult, Buccal administration, medicine.disease, MESH: Prospective Studies, Reproductive Medicine, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Skin biopsy, business, MESH: Female, X monosomy, XX mosaicism
Abstract: STUDY QUESTION Is there an added diagnosis value of buccal cell FISH analysis compared with blood lymphocyte chromosomal investigations in patients with Turner syndrome (TS)? SUMMARY ANSWER Buccal cell FISH analysis, a non-invasive technique, modified the chromosomal results obtained with the blood karyotype in 17 patients (12%) of our cohort. WHAT IS KNOWN ALREADY Few studies have evaluated buccal cell FISH analysis and compared them with blood karyotype in patients with TS. STUDY DESIGN, SIZE, DURATION A prospective, monocentric cohort study was conducted in a rare diseases centre (CMERC) between July 2017 and August 2019. PARTICIPANTS/MATERIALS, SETTING, METHODS In total, 142 adult patients with TS, and at least 5% 45,X cells in a previous blood karyotype, were recruited. All the patients’ files were included in the CEMARA database. This national database has been declared to the French data protection agency (CNIL approval number 1187326). In compliance with French law, consent regarding non-opposition to collect and use the data was obtained from each patient. A FISH analysis on a buccal smear was performed. MAIN RESULTS AND THE ROLE OF CHANCE The percentage of 45,X cells was identical between the two tissues in only 32.4% of cases. The discrepancy was higher than 41% for 12% of the cohort. The percentage of 45,X cells was higher in blood in 53 (37.3%) patients, and higher in buccal cells in 43 (30.3%) of cases. In 17 (12%) cases, the blood karyotype had to be reconsidered in regard to the buccal cell analysis. LIMITATIONS, REASONS FOR CAUTION It would have been interesting to evaluate karyotypes in cells from other tissues such as cells from skin biopsy or from the urinary tract and even from blood vessels or gonads in case of surgery and to compare them with each patient’s phenotype. However, most of the time, these tissues are not available. WIDER IMPLICATIONS OF THE FINDINGS Although blood lymphocyte karyotype remains the gold standard for the diagnosis of TS, buccal cell FISH analysis is an efficient tool to evaluate the global chromosomal constitution in these patients, thus allowing them to have better care and follow-up. For instance, identifying a Y chromosome can prevent the occurrence of a gonadoblastoma, as gonadectomy should be discussed. On the other hand, finding normal XX cells in a patient with a previous diagnosis of homogenous 45,X TS, may be psychologically helpful and relevant for gynaecological care. STUDY FUNDING/COMPETING INTEREST(S) No specific funding was sought for the study. The authors declare no competing interests. TRIAL REGISTRATION NUMBER N/A, N/A.
Published: 2020
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7. Gonad differentiation toward ovary

Author: Sophie Christin-Maitre, Sophie Lamothe, Valérie Bernard, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Sorbonne Université (SU)
Subjects: Male, endocrine system, Gonad, Sex Differentiation, Endocrinology, Diabetes and Metabolism, Female Phenotype, [SDV]Life Sciences [q-bio], 030209 endocrinology & metabolism, Ovary, Biology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine, Animals, Humans, Gonads, Sexual Development, Chromosome, Gene Expression Regulation, Developmental, Cell Differentiation, General Medicine, Sex Determination Processes, Phenotype, Cell biology, Testis determining factor, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Genital tract, Female, Hormone
Abstract: Gonad differentiation depends on a set of cellular and hormonal signals interacting in a specific order, with very precise windows of action, to contribute to the establishment of the genital tract and a male or female phenotype. Research initially focused on the stages of gonad differentiation toward testis, in particular following the identification in 1990 of the SRY factor on chromosome Y. The mechanisms involved in gonad differentiation toward ovary took longer to identify. Thanks to patients with different sexual development (DSD) and animal knock-out models, description of the cascades involved in the activation and maintenance of ovarian development has progressed considerably in recent years.
Published: 2020
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8. Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

Author: Stéphane Ederhy, Elisabeth Sarrazin, B. Donadille, Olivier Lascols, Fabien Picard, Bruno Fève, Isabelle Jéru, Corinne Vigouroux, Karim Wahbi, Camille Vatier, Ariel Cohen, Héléna Mosbah, Sophie Benabbou, Pascale Richard, Sophie Christin-Maitre, Marie-Christine Vantyghem, B. Neraud, Alban Redheuil, Jocelyn Inamo, Franck Boccara, Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Recherche translationnelle sur le diabète - U 1190 (RTD), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU de la Martinique [Fort de France], Hôpital Pierre Zobda-Quitman [CHU de la Martinique], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Hôpital Foch [Suresnes], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Filière Neuromusculaire (FILNEMUS), Institut de cardiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Imagerie Biomédicale [Paris] (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-CHU Saint-Antoine [AP-HP], Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], Service de Cardiologie [CHU Saint-Antoine], Laboratoire commun de biologie et génétique moléculaires [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire d'Imagerie Biomédicale (LIB), Service de radiologie cardiovasculaire et interventionnelle [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Gestionnaire, Hal Sorbonne Université, and Service de Radiologie cardiovasculaire et interventionnelle [CHU Pitié-Salpêtrière]
Subjects: 0301 basic medicine, medicine.medical_specialty, lipodystrophy, [SDV]Life Sciences [q-bio], Cardiomyopathy, LMNA, 030204 cardiovascular system & hematology, Progeroid syndromes, 03 medical and health sciences, 0302 clinical medicine, lmna, cardiovascular disease, Internal medicine, medicine, lcsh:QH301-705.5, Coronary atherosclerosis, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Generalized lipodystrophy, Partial Lipodystrophy, Dilated cardiomyopathy, General Medicine, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, lcsh:Biology (General), Cardiology, Lipodystrophy, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Variants in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and progeroid syndromes. Cardiovascular laminopathic involvement is classically described as cardiomyopathy in striated muscle laminopathies, and arterial wall dysfunction and/or valvulopathy in lipodystrophic and/or progeroid laminopathies. We report unexpected cardiovascular phenotypes in patients with LMNA-associated lipodystrophies, illustrating the complex multitissular pathophysiology of the disease and the need for specific cardiovascular investigations in affected patients. A 33-year-old woman was diagnosed with generalized lipodystrophy and atypical progeroid syndrome due to the newly identified heterozygous LMNA p.(Asp136Val) variant. Her complex cardiovascular phenotype was associated with atherosclerosis, aortic valvular disease and left ventricular hypertrophy with rhythm and conduction defects. A 29-year-old woman presented with a partial lipodystrophy syndrome and a severe coronary atherosclerosis which required a triple coronary artery bypass grafting. She carried the novel heterozygous p.(Arg60Pro) LMNA variant inherited from her mother, affected with partial lipodystrophy and dilated cardiomyopathy. Different lipodystrophy-associated LMNA pathogenic variants could target cardiac vasculature and/or muscle, leading to complex overlapping phenotypes. Unifying pathophysiological hypotheses should be explored in several cell models including adipocytes, cardiomyocytes and vascular cells. Patients with LMNA-associated lipodystrophy should be systematically investigated with 24-h ECG monitoring, echocardiography and non-invasive coronary function testing.
Published: 2020
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9. Cortisol and Aldosterone Responses to Hypoglycemia and Na Depletion in Women With Non-Classic 21-Hydroxylase Deficiency

Author: Laurence Pietri, Jean-François Gautier, H. Bry, Michel Azizi, Anne Blanchard, Julien Thomas, Antonin Lamaziere, Yves Le Bouc, Sylvie Salenave, Sylvie Brailly-Tabard, Sophie Christin-Maitre, Lise Duranteau, Bruno Donadille, Céline Piedvache, Aurélien Lorthioir, Peter Kamenický, Jacques Young, Philippe Chanson, Seray Genc, Marie-Laure Raffin-Sanson, CIC - HEGP (CIC 1418), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC)
Subjects: Hydrocortisone, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Clinical Biochemistry, Biochemistry, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Prospective Studies, Aldosterone, 030219 obstetrics & reproductive medicine, biology, Incidence, 21-Hydroxylase, Middle Aged, Prognosis, Female, France, Pseudogenes, Cortisol secretion, Adult, medicine.medical_specialty, Adolescent, food.diet, 030209 endocrinology & metabolism, Equivalence Trials as Topic, Low sodium diet, Hypoglycemia, 03 medical and health sciences, Young Adult, food, Internal medicine, Renin–angiotensin system, medicine, Adrenal insufficiency, Humans, Adrenal Hyperplasia, Congenital, business.industry, Biochemistry (medical), Insulin tolerance test, Sodium, medicine.disease, chemistry, Case-Control Studies, biology.protein, business, Biomarkers, Follow-Up Studies
Abstract: Background Non-classic 21-hydroxylase deficiency is usually diagnosed in post-pubertal women because of androgen excess. Indication of systematic steroid replacement therapy is controversial because the risk of acute adrenal insufficiency is unknown. In order to specify this risk we evaluated the cortisol and aldosterone secretions in response to appropriate pharmacologic challenges. Methods In this prospective case–control non-inferiority study we investigated 20 women with non-classic 21-hydroxylase deficiency carrying biallelic CYP21A2 mutations and with serum 17-hydroxyprogesterone (17OHP) >10 ng/mL after stimulation with Synacthen® (tetracosactrin) and 20 age- and body mass index-matched healthy women with 17OHP after Synacthen® Findings The peak serum cortisol concentration after insulin hypoglycemia was lower in patients than in controls (mean difference –47 ng/mL, 90% CI, –66, P = 0.0026). A peak serum cortisol above a cutoff value of 170 ng/mL was obtained in all controls but only in 55% of patients (P = 0.0039). Twenty-four hours after sodium depletion, blood pressure, plasma sodium, potassium, and serum aldosterone concentrations were comparable between the two groups, but patients had higher stimulated renin concentrations than controls (P = 0.0044). Interpretation Patients with non-classic 21-hydroxylase deficiency frequently display partial cortisol insufficiency and compensated defect in aldosterone secretion. Their clinical management should systematically include assessment of adrenal functions.
Published: 2020
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10. Monogenic forms of lipodystrophic syndromes - diagnosis, detection, and practical management considerations from clinical cases

Author: Corinne Vigouroux, Marie-Christine Vantyghem, Camille Vatier, Jean-Claude Carel, Sophie Christin-Maitre, Bruno Fève, Isabelle Jéru, Jacques Beltrand, Olivier Lascols, Caroline Storey, Elise Bismuth, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-CHU Saint-Antoine [AP-HP], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Sorbonne Paris Cité (USPC), Laboratoire commun de biologie et génétique moléculaires [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'endocrinologie, gynécologie et diabétologie pédiatriques [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'endocrinologie, diabétologie et nutrition, Centre de Recherche en Nutrition Humaine - Ile de France (CRNH - IDF)-Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13), Gestionnaire, Hal Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Sorbonne Paris Cité (USPC)-Hôpital Jean Verdier [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre de Recherche en Nutrition Humaine - Ile de France (CRNH - IDF)
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Lipodystrophy, Familial partial lipodystrophy, Berardinelli-Seip congenital lipodystrophy, Early detection, Consanguinity, 030204 cardiovascular system & hematology, Metreleptin, Congenital generalized lipodystrophy, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, GTP-Binding Protein gamma Subunits, medicine, Humans, 030212 general & internal medicine, Aged, Metabolic Syndrome, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, business.industry, Infant, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, 3. Good health, Fatty Liver, chemistry, Mutation, Berardinelli-Seip Congenital Lipodystrophy, Female, business, Acyltransferases
Abstract: International audience; BACKGROUND: Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. insulin resistance, dyslipidemia, fatty liver, and diabetes, and to provide appropriate genetic counseling. By means of several representative case studies, this article illustrates the diagnostic and management challenges of lipodystrophic syndromes.REVIEW: Berardinelli-Seip congenital lipodystrophy (BSCL) is typically diagnosed at birth, or soon thereafter, with generalized lipoatrophy and hepatomegaly secondary to hepatic steatosis. Physicians must also consider this diagnosis in adults with atypical non-autoimmune diabetes, hypertriglyceridemia, and a lean and muscular phenotype. The BSCL1 subtype due to mutations in the AGPAT2 gene can have an unusual presentation, especially in neonates and infants. Particular attention should be paid to infants presenting failure to thrive who also have hepatomegaly and metabolic derangements. The BSCL2 sub-type due to mutations in the BSCL gene tends to be more severe than BSCL1, and is characterized by greater fat loss, mild intellectual disability, earlier onset of diabetes, and higher incidence of premature death. Effective management from an earlier age may moderate the natural disease course. Partial lipodystrophies may easily be confused with common central obesity and/or metabolic syndrome. In patients with unexplained pancreatitis and hypertriglyceridemia, lipodystrophies such as familial partial lipodystrophy type 2 (FPLD2; Dunnigan type, due to LMNA mutations) should be considered. Oral combined contraceptives, which can reveal the disease by inducing severe hypertriglyceridemia, are contraindicated. Endogenous estrogens may also lead to "unmasking" of the FPLD2 phenotype, which often appears at puberty, and is more severe in females than males.CONCLUSIONS: Diet and exercise, adapted to age and potential comorbidities, are essential prerequisites for therapeutic management of lipodystrophic syndromes. Metreleptin therapy can be useful to manage lipodystrophy-related metabolic complications
Published: 2019
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11. MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome

Author: Sophie Christin-Maitre, Mariana Nedelcu, Laetitia Martinerie, Tiphaine Le Poulennec, Valérie Bernard, Bruno Donadille, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université de Paris (UP), Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Droit et Santé (IDS - U1145), Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), and Gestionnaire, Hal Sorbonne Université
Subjects: medicine.medical_specialty, Pediatrics, Endocrinology, Diabetes and Metabolism, Turner syndrome, Population, Karyotype, MEDLINE, 030209 endocrinology & metabolism, Adult care, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Young adult, education, Paediatric patients, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, education.field_of_study, Endocrine disease, business.industry, digestive, oral, and skin physiology, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, 3. Good health, 030220 oncology & carcinogenesis, Transition, business, Neurocognitive, Rare disease
Abstract: International audience; Turner syndrome (TS), affecting 1/2000 to 1/2500 live born girls, is a chromosomal aberration with a total or partial loss of one of the X chromosomes. The diagnosis can be established from the intra-uterine life to adulthood. TS is a chronic disease with particular morbidity and mortality. The loss to follow-up rate, during transition, between children and adult units, remains a crucial issue. This review focusses on the adolescent and young adult patients with TS. The different goals of TS transition are presented as well as some of the tools available in order to improve this transition. The involvement of the patient’s family, advocacy groups and therapeutic educational programs are discussed. A specificity concerning TS transition, as compared to other chronic diseases, relies on the fact that patients with TS may present a peculiar neurocognitive profile. They are in general more anxious than the general population. Therefore, psychological support should be offered to optimize transition. Data illustrating the beneficial impact of an organised transition of TS, from paediatric units to multidisciplinary adult care systems, within the same reference centre are presented. Further studies are required to evaluate the mid-to-long-term transition of paediatric patients with TS referred to adult units.
Published: 2019
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12. How can we make pregnancy safe for women with Turner syndrome?

Author: Valérie Bernard, Bruno Donadille, Sophie Christin-Maitre, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gestionnaire, Hal Sorbonne Université, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), and Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP]
Subjects: medicine.medical_specialty, Turner syndrome, Pregnancy Complications, Cardiovascular, Population, 030209 endocrinology & metabolism, Reproductive technology, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Risk Assessment, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, aortic dissection, education, Contraindication, Genetics (clinical), [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Aortic dissection, fertility, Pregnancy, education.field_of_study, 030219 obstetrics & reproductive medicine, Oocyte Donation, business.industry, Obstetrics, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, mortality, 3. Good health, [SDV.MHEP.GEO] Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Blood pressure, Female, pregnancy, business, Postpartum period
Abstract: International audience; Pregnancy is a crucial issue in patients with Turner syndrome (TS). Although natural pregnancies have been reported in 4-7% of TS patients, most women will need assisted reproductive technologies (ART) with oocyte donation. The main issue is the maternal mortality rate that is higher than in the general population. It is related to cardiovascular anomalies and particularly aortic dissection. TS, per se, is not a contraindication for pregnancy, but a multidisciplinary screening is mandatory before initiating a pregnancy. It includes repeated aortic diameters evaluation, blood pressure measurement and biological testing evaluating thyroid and liver functions, as well as blood glucose level. In order to make the pregnancy safe, contraindications of pregnancy should be respected and identification of high-risk patients for cardiovascular events should be performed. Hypertension and pre-eclampsia prevention may benefit from beta-blockers and aspirin, respectively. Collaborations between endocrinologists, cardiologists, and obstetricians are mandatory during pregnancy and even in the postpartum period. Counseling the patients about the risks of pregnancy, screening them and spreading the international guidelines to physicians taking care of patients with TS are the three pillars of a safe pregnancy.
Published: 2019
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13. MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

Author: Corinne Vigouroux, Philippe Froguel, Olivier Lascols, Emmanuel Disse, Sara Barraud, Emilie Capel, Anne Miquel, J.J. Robert, Martine Laville, Héléna Mosbah, Isabelle Jéru, Pierre Gourdy, Brigitte Delemer, Martine Auclair, Florence Tenenbaum, Camille Vatier, Tanya Stojkovic, Amélie Bonnefond, Marie Christine Verpont, Stephan Züchner, Pascale Cervera, Anne-Ségolène Cottereau, Sophie Christin-Maitre, Bruno Fève, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre de Recherche en Nutrition Humaine Rhône-Alpes (CRNH-RA), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Recherche Agronomique (INRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-CHU Saint-Etienne-Hospices Civils de Lyon (HCL)-CHU Grenoble, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Pathologie de l'Adipocyte et des Cellules Hepatiques, CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de médecine moléculaire de Rangueil (I2MR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-IFR150-Institut National de la Santé et de la Recherche Médicale (INSERM), John P. Hussman Institute for Human Genomics, University of Miami Leonard M. Miller School of Medicine (UMMSM), Institut de recherche en biothérapie (IRB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Institut de biologie de Lille - UMS 3702 (IBL), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Université de Toulouse (UT)-Université de Toulouse (UT)- Institut Fédératif de Recherche Bio-médicale Institution (IFR150)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Reims (CHU Reims), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), and Institute of Cardiometabolism and Nutrition,Institut National de la Sante et de la Recherche MedicaleSorbonne UniversiteAFERO (Association Francaise d’Etude et de Recherche sur l’Obesite)
Subjects: Adult, Male, Leptin, 0301 basic medicine, medicine.medical_specialty, FGF21, Lipodystrophy, Endocrinology, Diabetes and Metabolism, Lipomatosis, Adipose tissue, GTP Phosphohydrolases, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Insulin resistance, Internal medicine, Genetics, Mitofusin 2, Internal Medicine, medicine, Humans, RNA, Messenger, Lipoatrophy, ComputingMilieux_MISCELLANEOUS, Aged, Nutrition and Dietetics, Adiponectin, business.industry, Thermogenic markers, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, Mitochondria, Neuropathy, 3. Good health, 030104 developmental biology, Endocrinology, Adipose Tissue, Dyslipidemia, Positron-Emission Tomography, Lipomatosis, Multiple Symmetrical, Female, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery
Abstract: Background Multiple symmetric lipomatosis (MSL) is characterized by upper-body lipomatous masses frequently associated with metabolic and neurological signs. MFN2 pathogenic variants were recently implicated in a very rare autosomal recessive form of MSL. MFN2 encodes mitofusin-2, a mitochondrial fusion protein previously involved in Charcot-Marie-Tooth neuropathy. Objective To investigate the clinical, metabolic, tissular, and molecular characteristics of MFN2-associated MSL. Methods We sequenced MFN2 in 66 patients referred for altered fat distribution with one or several lipomas or lipoma-like regions and performed clinical and metabolic investigations in patients with positive genetic testing. Lipomatous tissues were studied in 3 patients. Results Six patients from 5 families carried a homozygous p.Arg707Trp pathogenic variant, representing the largest reported series of MFN2-associated MSL. Patients presented both lipomatous masses and a lipodystrophic syndrome (lipoatrophy, low leptinemia and adiponectinemia, hypertriglyceridemia, insulin resistance and/or diabetes). Charcot-Marie-Tooth neuropathy was of highly variable clinical severity. Lipomatous tissue mainly contained hyperplastic unilocular adipocytes, with few multilocular cells. It displayed numerous mitochondrial alterations (increased number and size, structural defects). As compared to control subcutaneous fat, mRNA and protein expression of leptin and adiponectin was strikingly decreased, whereas the CITED1 and fibroblast growth factor 21 (FGF21) thermogenic markers were strongly overexpressed. Consistently, serum FGF21 was markedly increased, and 18F-FDG-PET-scan revealed increased fat metabolic activity. Conclusion MFN2-related MSL is a novel mitochondrial lipodystrophic syndrome involving both lipomatous masses and lipoatrophy. Its complex neurological and metabolic phenotype justifies careful clinical evaluation and multidisciplinary care. Low leptinemia and adiponectinemia, high serum FGF21, and increased 18F-FDG body fat uptake may be disease markers.
Published: 2018
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14. Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

Author: Clémentine Dupuis, Juliane Leger, Sabine Baron, Catherine Naud-Saudreau, Bruno Donadille, Jean-Claude Carel, Régis Coutant, Delphine Zenaty, Marc de Kerdanet, Sophie Christin-Maitre, Claire Bouvattier, Chantal Metz-Blond, Laurence Dumeige, Blandine Esteva, Capucine Hyon, Dinane Samara-Boustani, Marc Nicolino, Jean-Pierre Siffroi, Laetitia Martinerie, Livie Chatelais, Pôle médico-chirurgical de pédiatrie et de génétique clinique, CHU Pontchaillou [Rennes], Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service de Pédiatrie, Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Physiopathologie des maladies génétiques d'expression pédiatrique (UMRS_933), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Service d'endocrinologie, gynécologie et diabétologie pédiatriques [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Endocrinologie et Diabétologie Pédiatriques [AP-HP Hôpital Robert-Debré], Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Endocrinologie Pédiatrique [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), CH Bretagne Sud, Université de Caen Normandie - UFR Santé (UNICAEN Santé), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Service d'Endocrinologie et Diabétologie Pédiatriques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris Diderot - Paris 7 (UPD7), Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré], Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), PremUp Foundation, Institut de Recherche pour le Développement (IRD)-CHI Créteil-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Université de Paris (UP), and Université Sorbonne Paris Cité (USPC)
Subjects: Male, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Gonadal dysgenesis, Physiology, Sex Chromosome Disorders, XY, 0302 clinical medicine, Endocrinology, Monosomy, Pregnancy, Prenatal Diagnosis, Medicine, Fertility preservation, Longitudinal Studies, Child, Sex Chromosome Aberrations, Growth Disorders, Azoospermia, 2. Zero hunger, 030219 obstetrics & reproductive medicine, Male Phenotype, Mosaicism, General Medicine, 3. Good health, Phenotype, Female, France, medicine.symptom, Human, Adult, medicine.medical_specialty, 030209 endocrinology & metabolism, Prenatal diagnosis, Short stature, Chromosomes, 03 medical and health sciences, Internal medicine, Humans, Genitalia, Retrospective Studies, Chromosomes, Human, X, Disorder of Sex Development, 46,XY, business.industry, Puberty, Infant, Newborn, Disorder of Sex Development, Infant, medicine.disease, Newborn, Body Height, Karyotyping, business, Follow-Up Studies
Abstract: Objective Few studies of patients with a 45,X/46,XY mosaicism have considered those with normal male phenotype. The purpose of this study was to evaluate the clinical outcome of 45,X/46,XY boys born with normal or minor abnormalities of external genitalia, notably in terms of growth and pubertal development. Methods Retrospective longitudinal study of 40 patients followed between 1982 and 2017 in France. Results Twenty patients had a prenatal diagnosis, whereas 20 patients had a postnatal diagnosis, mainly for short stature. Most patients had stunted growth, with abnormal growth spurt during puberty and a mean adult height of 158 ± 7.6 cm, i.e. −2.3 DS with correction for target height. Seventy percent of patients presented Turner-like syndrome features including cardiac (6/23 patients investigated) and renal malformations (3/19 patients investigated). Twenty-two patients had minor abnormalities of external genitalia. One patient developed a testicular embryonic carcinoma, suggesting evidence of partial gonadal dysgenesis. Moreover, puberty occurred spontaneously in 93% of patients but 71% (n = 5) of those evaluated at the end of puberty presented signs of declined Sertoli cell function (low inhibin B levels and increased FSH levels). Conclusion This study emphasizes the need to identify and follow-up 45,X/46,XY patients born with normal male phenotype until adulthood, as they present similar prognosis than those born with severe genital anomalies. Currently, most patients are diagnosed in adulthood with azoospermia, consistent with our observations of decreased testicular function at the end of puberty. Early management of these patients may lead to fertility preservation strategies.
Published: 2018
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15. Complex Association of Sex Hormones on Left Ventricular Systolic Function: Insight into Sexual Dimorphism

Author: Philippe Touraine, Sylvie Salenave, Jean-Sébastien Hulot, Anne Bachelot, Christian Funck-Brentano, Joe-Elie Salem, N. Bourcigaux, Philippe Chanson, Monique Leban, Michel Polak, Gisèle Preud’Homme, Juliane Léger, Richard Isnard, Jérôme Dulon, Nadjib Hammoudi, Nora Dahmoune, Sophie Christin Maitre, Lee S. Nguyen, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de pharmacologie médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Cardiologie [CHU Pitié-Salpêtrière], Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Centre des Pathologies gynécologiques Rares [CHU Pitié-Salpêtrière], Institut E3M [CHU Pitié-Salpêtrière], Service d’endocrinologie et médecine de la reproduction [CHU Pitié-Salpêtrière], Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Gestionnaire, Hal Sorbonne Université, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Pharmacologie médicale [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Service d'Endocrinologie et Médecine de la Reproduction [CHU Pitié-Salpêtrière]
Subjects: Adult, Male, Cardiac function curve, medicine.medical_specialty, Systole, Physiology, Heart Ventricles, 030204 cardiovascular system & hematology, Ventricular Function, Left, 030218 nuclear medicine & medical imaging, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Sex hormone-binding globulin, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Interquartile range, Internal medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, Congenital adrenal hyperplasia, Sex hormones, Gonadal Steroid Hormones, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Ejection fraction, biology, business.industry, Stroke Volume, Stroke volume, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, Ventricular functions, Healthy Volunteers, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Echocardiography, Heart failure, Cardiology, biology.protein, Female, Cardiology and Cardiovascular Medicine, business
Abstract: International audience; BACKGROUND: Normal values of left ventricular ejection fraction (LVEF) and absolute values of global longitudinal strain (GLS) are lower in men than in women. Data concerning the association of sex hormone levels on these left ventricular systolic function surrogates are scarce. The aim of this study was to determine the association of sex hormones with systolic left ventricular function in healthy subjects and patients with congenital adrenal hyperplasia (CAH) as a model of testosterone dysregulation.METHODS: Eighty-four adult patients with CAH (58 women; median age, 27 years; interquartile range, 23-36 years) and 84 healthy subjects matched for sex and age were prospectively included. Circulating concentrations of sex hormones were measured within 48 hours of echocardiography with assessment of LVEF and left ventricular longitudinal, radial, and circumferential strain.RESULTS: LVEF and GLS were higher in healthy women than in healthy men (63.9 ± 4.2% vs 60.9 ± 5.1% [P < .05] and 20.0 ± 1.9% vs 17.9 ± 2.4% [P < .001], respectively), while there was no difference in LVEF or GLS between women and men with CAH (63.9 ± 4.5% vs 63.0 ± 4.6% [P = NS] and 19.4 ± 2.2% vs 18.3 ± 1.8% [P = NS], respectively). Bioavailable testosterone levels were higher in women with CAH than in female control subjects (0.08 ng/mL [interquartile range, 0.04-0.14 ng/mL] vs 0.16 ng/mL [interquartile range, 0.04-0.3 ng/mL], P < .001) and lower in men with CAH than in male control subjects (2.3 ng/mL [interquartile range, 1.3-3 ng/mL] vs 2.9 ng/mL [interquartile range, 2.5-3.4 ng/mL], P < .05). In men, LVEF and GLS were negatively correlated with bioavailable testosterone levels (r = -0.3, P ≤ .05, and r = -0.45, P < .01, respectively), while midventricular radial strain was positively correlated with bioavailable testosterone level (r = 0.38, P < .05). The absolute value of circumferential strain was positively correlated with follicle-stimulating hormone (r = 0.65, P < .0001).CONCLUSIONS: These data support that the existence of sex dimorphism concerning left ventricular systolic cardiac function is significantly associated with testosterone levels.
Published: 2018
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16. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association

Author: Isabelle Honoré, Bernard Maitre, André Coste, Mieke Boon, Jean-François Papon, Estelle Escudier, Harry Cuppens, Martine Jaspers, Rahma Mani, Natalie Lorent, L. Bassinet, Marie Legendre, Gert Jan Vanaken, Sophie Christin-Maitre, Serge Amselem, Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Pneumologie [CHI Créteil], CHI Créteil, University Hospitals Leuven [Leuven], Service de pneumologie [CHU Cochin], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d’ORL et de chirurgie cervico-faciale [CHU Le Kremlin-Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), IMRB - 'Biomechanics and Respiratory Apparatus' [Créteil] (U955 Inserm - UPEC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service d'ORL [Créteil], Centre Hospitalier Intercommunal de Créteil (CHIC), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Service de Pneumologie et Pathologie Professionnelle, CHI Créteil-Faculté de Médecine, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], and Couvet, Sandrine
Subjects: 0301 basic medicine, Pulmonary and Respiratory Medicine, Infertility, Adult, Male, [SDV]Life Sciences [q-bio], [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Infertility, Male, MESH: Phenotype, Andrology, Cohort Studies, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, otorhinolaryngologic diseases, Medicine, Humans, Gene, MESH: Cohort Studies, Infertility, Male, Primary ciliary dyskinesia, MESH: Middle Aged, MESH: Humans, MESH: Infertility, Female, business.industry, Genetic heterogeneity, MESH: Genetic Heterogeneity, MESH: Adult, Middle Aged, medicine.disease, Phenotype, Gene association, MESH: Male, [SDV] Life Sciences [q-bio], 030104 developmental biology, 030228 respiratory system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cohort, Female, MESH: Ciliary Motility Disorders, business, Infertility, Female, MESH: Female, Cohort study, Ciliary Motility Disorders
Abstract: Infertility, observed in 75% of male and 61% of female PCD patients, is dependent on ultrastructural and gene defects http://ow.ly/P4K030fPnPp
Published: 2017
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17. Gangliocytoma: outcome of a rare silent pituitary tumour

Author: Chiara Villa, Stephan Gaillard, Sophie Christin-Maitre, Bruno Donadille, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Hôpital Foch [Suresnes]
Subjects: medicine.medical_specialty, Central nervous system, Enteroendocrine cell, Adrenocorticotropic hormone, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Endocrine system, Humans, Pituitary Neoplasms, Gangliocytoma, Incidental Findings, business.industry, Ganglioneuroma, General Medicine, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Growth hormone–releasing hormone, Magnetic Resonance Imaging, Prolactin, 3. Good health, Endocrinology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], business, 030217 neurology & neurosurgery, Hormone
Abstract: International audience; The most common finding in front of a pituitary incidentaloma is a silent pituitary adenoma. We describe a 59 years old woman with a pituitary gangliocytoma and her follow-up after 1 year. Hormonal exploration only evidenced partial corticotropic insufficiency. A trans-sphenoidal surgery was performed due to the tumour's suprasellar expansion. Gangliocytoma is a benign tumour of unknown prevalence, belonging to central nervous system tumour with neuronal differentiation, and 129 cases have been reported in the literature. growth hormone (GH), adrenocorticotropic hormone (ACTH) or prolactin secretions have been reported, as these ganglion cell-like mature neurons are usually mixed with secreting pituitary endocrine cells. We report a case with a pure gangliocytoma devoid of symptomatic endocrine secretion, not surrounded by pituitary endocrine tumour cells. Immunochemistry of the tumour was positive for hypothalamic growth hormone releasing hormone (GHRH) and pituitary hormones, such as GH and ACTH. Hence, this immunoexpression was not associated with peripheral hormonal secretions, suggesting biologically inactive hypothalamopituitary hormones.
Published: 2017
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18. French law: what about a reasoned reimbursement of serum vitamin D assays?

Author: Jean-Claude Souberbielle, Claude Laurent Benhamou, Bernard Cortet, Mickael Rousière, Christian Roux, Vered Abitbol, Cédric Annweiler, Maurice Audran, Justine Bacchetta, Pierre Bataille, Olivier Beauchet, Rémi Bardet, Alexandra Benachi, Francis Berenbaum, Hubert Blain, Françoise Borson-Chazot, Véronique Breuil, Karine Briot, Philippe Brunet, Jean-Claude Carel, Philippe Caron, Olivier Chabre, Philippe Chanson, Roland Chapurlat, Pierre Cochat, Régis Coutant, Sophie Christin-Maitre, Martine Cohen-Solal, Christian Combe, Catherine Cormier, Marie Courbebaisse, Grégory Debrus, Brigitte Delemer, Georges Deschenes, Marc Duquenne, Guillaume Duval, Patrice Fardellone, Denis Fouque, Gérard Friedlander, Jean-Bernard Gauvain, Lionel Groussin, Pascal Guggenbuhl, Pascal Houillier, Thierry Hannedouche, William Jacot, Rose-Marie Javier, Guillaume Jean, Claude Jeandel, Dominique Joly, Peter Kamenicky, Bertrand Knebelmann, Marie-Hélène Lafage-Proust, Yves LeBouc, Erick Legrand, Florence Levy-Weil, Agnès Linglart, Laurent Machet, Emmanuel Maheu, Eric Mallet, Christian Marcelli, Pierre Marès, Christophe Mariat, Gérard Maruani, Yves Maugars, France Montagnon, Bruno Moulin, Philippe Orcel, Henri Partouche, Virginie Personne, Charles Pierrot-Deseilligny, Michel Polak, Claire Pouteil-Noble, Dominique Prié, Agathe Raynaud-Simon, Yves Rolland, Jean-Louis Sadoul, Bernard Salle, Corinne Sault, Anne-Marie Schott, Isabelle Sermet-Gaudelus, Martin Soubrier, Ivan Tack, Eric Thervet, Isabelle Tostivint, Philippe Touraine, Florence Tremollières, Pablo Urena-Torres, Jean-Paul Viard, Jean-Louis Wemeau, Georges Weryha, Norbert Winer, Jacques Young, Thierry Thomas, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire d'Informatique de Nantes Atlantique (LINA), Mines Nantes (Mines Nantes)-Université de Nantes (UN)-Centre National de la Recherche Scientifique (CNRS), Service de rhumatologie[Lille], Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire d'aérologie (LAERO), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Observatoire Midi-Pyrénées (OMP), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Centre National de la Recherche Scientifique (CNRS), Laboratoire des Matériels Électriques (EDF R&D LME), EDF R&D (EDF R&D), EDF (EDF)-EDF (EDF), Centre d'Analyse et d'Intervention Sociologiques (CADIS), École des hautes études en sciences sociales (EHESS)-Centre National de la Recherche Scientifique (CNRS), Département de Médecine Interne et Gérontologie clinique, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de gynécologie-obstétrique, médecine de la reproduction [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Department of Geriatrics - Efficiency and Deficiency Laboratory, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de rhumatologie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Vascular research center of Marseille (VRCM), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Trigone-CIREL, Centre Interuniversitaire de Recherche en Education de Lille - ULR 4354 (CIREL), Université de Lille-Université de Lille, Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Service de rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques (BIOSCAR (UMR_S_1132 / U1132)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Rhumatologie [CHU Lariboisière], Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité Expérimentale Recherches Intégrées - Gotheron (UERI), Institut National de la Recherche Agronomique (INRA), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité de Néphrologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Université de Bordeaux (UB), Mécanismes physiopathologiques et conséquences des calcifications vasculaires - UR UPJV 7517 (MP3CV), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, Motricité - Plasticité, Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Centre de recherche sur le développement territorial (CRDT), Centre de recherche sur le développement territorial, CHU Pontchaillou [Rennes], Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut Pascal (IP), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-SIGMA Clermont (SIGMA Clermont)-Centre National de la Recherche Scientifique (CNRS), Service de rhumatologie [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Information – Technologies – Analyse Environnementale – Procédés Agricoles (UMR ITAP), Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Centre de Physique Théorique [Palaiseau] (CPHT), École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS), Département de Médecine Générale, Université Paris Descartes - Paris 5 (UPD5), CHU Pitié-Salpêtrière [AP-HP], Service de néphrologie et transplantation, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de recherche Croissance et signalisation (UMR_S 845), Service d'Endocrinologie (NICE - Endocrino), Centre Hospitalier Universitaire de Nice (CHU Nice), CIC Cochin Pasteur (CIC 1417), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5)-Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, CPMF2 - Flemish Cluster Predictive Microbiology in Foods - www.cpmf2.be BioTeC - Chemical and Biochemical Process Technology and Control Department of Chemical Engineering, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de ménopause, Centre de Diagnostic et de Thérapeutique, Hôpital de l’Hôtel-Dieu [Paris], Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Service d'Endocrinologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'obstétrique-gynécologie [Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Institut für Kernphysik der Universität zu Köln, Universität zu Köln = University of Cologne, Centre National de la Recherche Scientifique (CNRS)-Mines Nantes (Mines Nantes)-Université de Nantes (UN), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Observatoire Midi-Pyrénées (OMP), Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Centre National de la Recherche Scientifique (CNRS), Service de rhumatologie [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Eq 4, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Centre de médecine nucléaire, Fédération d'endocrinologie-Groupement hospitalier Lyon-Est-Fédération d'endocrinologie-Groupement hospitalier Lyon-Est, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Centre National de la Recherche Scientifique (CNRS)-École polytechnique (X), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre des Pathologies gynécologiques Rares [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut E3M [CHU Pitié-Salpêtrière], Hôpital Paule de Viguier, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Universität zu Köln, Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire d'aérologie (LA), Centre National de la Recherche Scientifique (CNRS)-Observatoire Midi-Pyrénées (OMP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Antoine Béclère, Centre de Recherche Saint-Antoine (CR Saint-Antoine), Service de rhumatologie, inflammation-immunopathologie- biothérapie [CHU Saint-Antoine] (DHU i2B ), CHU Saint-Antoine [APHP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Centre de Recherche en Cancérologie de Lyon (CRCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Groupement Hospitalier Lyon-Est (GHE), Centre Interuniversitaire de Recherche en Education de Lille (CIREL) - EA 4354 (CIREL), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Hôpital Lariboisière, Unité de Recherches Intégrées - Gotheron (GOTH RI UERI), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Laboratoire de génie chimique [ancien site de Basso-Cambo] (LGC), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Sigma CLERMONT (Sigma CLERMONT)-Centre National de la Recherche Scientifique (CNRS), Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5)-Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Gabriel Montpied (CHU), CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut für Kernphysik - Universität zu Köln, Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Université Fédérale Toulouse Midi-Pyrénées-Météo-France -Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11), Laboratoire d'Informatique de Nantes Atlantique ( LINA ), Centre National de la Recherche Scientifique ( CNRS ) -Mines Nantes ( Mines Nantes ) -Université de Nantes ( UN ), Hôpital Roger Salengro-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Laboratoire d'aérologie - LA ( LA ), Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut national des sciences de l'Univers ( INSU - CNRS ) -Observatoire Midi-Pyrénées ( OMP ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire des Matériels Électriques ( EDF R&D LME ), EDF R&D ( EDF R&D ), EDF ( EDF ) -EDF ( EDF ), Centre d'Analyse et d'Intervention Sociologiques ( CADIS ), École des hautes études en sciences sociales ( EHESS ) -Centre National de la Recherche Scientifique ( CNRS ), CHU Angers, Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Antoine Béclère, Centre de Recherche Saint-Antoine ( CR Saint-Antoine ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Service de rhumatologie, inflammation-immunopathologie- biothérapie [CHU Saint-Antoine] ( DHU i2B ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Saint-Antoine [APHP], Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Centre de Recherche en Cancérologie de Lyon ( CRCL ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Groupement Hospitalier Lyon-Est ( GHE ), Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ) -Centre de médecine nucléaire, CHU Nice-Hôpital l'Archet, Vascular research center of Marseille ( VRCM ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Interuniversitaire de Recherche en Education de Lille (CIREL) - EA 4354 ( CIREL ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques ( BIOSCAR ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Unité de Recherches Intégrées - Gotheron ( GOTH RI UERI ), Institut National de la Recherche Agronomique ( INRA ), Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Laboratoire de génie chimique ( LGC ), Institut National Polytechnique [Toulouse] ( INP ) -Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique ( CNRS ), Université de Bordeaux ( UB ), Université de Bourgogne ( UB ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut Necker Enfants-Malades (INEM) ( INEM - UM 111 (UMR 8253 / U1151) ), Centre de recherche sur le développement territorial ( CRDT ), Institut Pascal ( IP ), Université Blaise Pascal - Clermont-Ferrand 2 ( UBP ) -Sigma CLERMONT ( Sigma CLERMONT ) -Centre National de la Recherche Scientifique ( CNRS ), Université de Nantes ( UN ) -Hôtel-Dieu-Centre hospitalier universitaire de Nantes ( CHU Nantes ), Information – Technologies – Analyse Environnementale – Procédés Agricoles ( UMR ITAP ), Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture ( IRSTEA ) -Institut national d’études supérieures agronomiques de Montpellier ( Montpellier SupAgro ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Lariboisière, Centre de Physique Théorique [Palaiseau] ( CPHT ), École polytechnique ( X ) -Centre National de la Recherche Scientifique ( CNRS ), Université Paris Descartes - Paris 5 ( UPD5 ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Université de Lyon-Université de Lyon-Hospices Civils de Lyon ( HCL ) -Centre Hospitalier Lyon Sud [CHU - HCL] ( CHLS ), Hospices Civils de Lyon ( HCL ), Centre de recherche Croissance et signalisation ( UMR_S 845 ), Service d'Endocrinologie ( NICE - Endocrino ), CHU Nice, CIC Cochin Pasteur ( CIC 1417 ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP]-Hôtel-Dieu-Université Paris Descartes - Paris 5 ( UPD5 ) -Groupe hospitalier Broca-Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU Gabriel Montpied ( CHU ), Katholieke Universiteit Leuven ( KU Leuven ), Université Pierre et Marie Curie - Paris 6 ( UPMC ), Assistance publique - Hôpitaux de Paris (AP-HP), Université Paris Descartes - Faculté de Médecine ( UPD5 Médecine ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Centre hospitalier universitaire de Nantes ( CHU Nantes ), and CRLCC Val d'Aurelle - Paul Lamarque-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, recommendation, Pediatrics, medicine.medical_specialty, Malabsorption, Legislation, Medical, [SDV]Life Sciences [q-bio], Osteoporosis, 030209 endocrinology & metabolism, Rickets, vitamin D, osteomalacia, vitamin D deficiency, 03 medical and health sciences, 0302 clinical medicine, rickets, medicine, Vitamin D and neurology, Humans, 030212 general & internal medicine, Biological Psychiatry, Reimbursement, Aged, Aged, 80 and over, Osteomalacia, Hematologic Tests, [ SDV ] Life Sciences [q-bio], business.industry, Hydroxycholecalciferols, assay, medicine.disease, Obesity, reimbursement, osteoporosis, 3. Good health, Surgery, clinical practice, Neuropsychology and Physiological Psychology, Insurance, Health, Reimbursement, Female, Neurology (clinical), France, Geriatrics and Gerontology, business, calcium phosphorus evaluation, chronic kidney disease
Abstract: International audience; The number of serum 25-hydroxyvitamin D (25OHD) assays has increased tenfold in France in less than 10 years, sometimes for invalidated reasons. In 2013, the French National Authority for Health (Haute autorité de santé, or HAS) limited the indications for serum 25OHD measurements to rickets/osteomalacia, older adults with recurrent falls, monitoring of kidney transplant in adults, and surgical treatment of obesity in adults. Our aim here was to note that other indications for serum 25OHD measurements are supported by previous literature and by a number of national and international recommendations, in particular the following: any situation of bone fragility, any chronic renal failure
Published: 2016
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19. Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

Author: Catherine Cardot-Bauters, Olivier Chabre, B. Delemer, Emilie Castermans, Eric Clauser, Michel Rodier, Georges Weryha, M.F. Odou, Alain Calender, F. Borson-Chazot, Abderrahmane Bourredjem, F Schillo, H. Du Boullay, Jean-Marc Kuhn, Véronique Kerlan, Anne Barlier, Catherine Lombard-Bohas, P. Lecomte, S. Giraud, B. Goichot, Albert Beckers, Sophie Christin-Maitre, I. Guilhem, F. Archambeaud, A. Tabarin, Hélène Bihan, Eric Pasmant, Jean-Louis Sadoul, Philippe Chanson, Patricia Niccoli, Julien Thevenon, Jérôme Bertherat, Vincent Rohmer, Pierre Goudet, Marc Le Renard, Lionel Groussin, P. Caron, N. Bourcigaux, Christine Binquet, Eric Baudin, Bruno Vergès, Laurence Faivre, Philippe Ruszniewski, M. Le Bras, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques (CIC-EC), Université de Bourgogne (UB)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, equipe 4, Centre de Recherche en Cancérologie de Lyon (CRCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de génétique et de physiologie moléculaire et cellulaire (CGPhiMC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Service de gastro-entérologie et assistance nutritive, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), centre hospitalier universitaire de liège, Service d'endocrinologie clinique, CHU Pontchaillou [Rennes], Service d'Endocrinologie (ANGERS - Endocrino), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de médecine interne et de nutrition, Hôpital de Hautepierre [Strasbourg], Médecine nucléaire, Département d'imagerie médicale [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Centre de consultations de pathologies professionnelles [CHRU Nancy] (CCPP), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'Endocrinologie [CHRU Nancy], Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Service d'Endocrinologie, Diabétologie et Maladies Métaboliques (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Cyanobactéries des milieux aquatiques tropicaux peu profonds. Rôles et contrôles (CYROCO), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Hôpital Edouard Herriot [CHU - HCL], Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-Université de Brest (UBO), FHU TRANSLAD (CHU de Dijon), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Hôpital Edouard Herriot [CHU - HCL], Laboratoire des Procédés d'Élaboration des Réactifs Fonctionnels (PERF), Ecole Nationale Supérieure de Chimie de Lille (ENSCL), Eq 4, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Centre de médecine nucléaire, Fédération d'endocrinologie-Groupement hospitalier Lyon-Est-Fédération d'endocrinologie-Groupement hospitalier Lyon-Est, CHU Lyon, Service d'Endocrinologie (GRENOBLE - Endocrino), CHU Grenoble, Institut Cochin (UMR_S567 / UMR 8104), Stress Oxydant et Pathologies Métaboliques (SOPAM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Pierre Aigrain (LPA), Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Université de Brest (UBO)-Université de Brest (UBO), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Agence nationale de la sécurité des systèmes d'information (ANSSI), Service d'Ophtalmologie (CHU de Dijon), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP]
Subjects: Oncology, Adult, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Adrenal Gland Neoplasm, Adrenal Gland Neoplasms, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, Pituitary neoplasm, Neuroendocrine tumors, Metastasis, Cohort Studies, Young Adult, Endocrinology, Age Distribution, Internal medicine, medicine, Multiple Endocrine Neoplasia Type 1, Humans, MEN1, Genetic Predisposition to Disease, Pituitary Neoplasms, Expressivity (genetics), Child, ComputingMilieux_MISCELLANEOUS, [SDV.BA]Life Sciences [q-bio]/Animal biology, Pituitary tumors, Bronchial Neoplasms, Infant, Newborn, Infant, General Medicine, Thymus Neoplasms, Heritability, Middle Aged, [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, Pedigree, Pancreatic Neoplasms, Neuroendocrine Tumors, Parathyroid Neoplasms, Child, Preschool, Female, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: BackgroundMEN1, which is secondary to the mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes mutation carriers to endocrine tumors. Most studies demonstrated the absence of direct genotype-phenotype correlations. The existence of a higher risk of death in the Groupe d'étude des Tumeurs Endocrines-cohort associated with a mutation in the JunD interacting domain suggests heterogeneity across families in disease expressivity. This study aims to assess the existence of modifying genetic factors by estimating the intrafamilial correlations and heritability of the six main tumor types in MEN1.MethodsThe study included 797 patients from 265 kindred and studied seven phenotypic criteria: parathyroid and pancreatic neuroendocrine tumors (NETs) and pituitary, adrenal, bronchial, and thymic (thNET) tumors and the presence of metastasis. Intrafamilial correlations and heritability estimates were calculated from family tree data using specific validated statistical analysis software.ResultsIntrafamilial correlations were significant and decreased along parental degrees distance for pituitary, adrenal and thNETs. The heritability of these three tumor types was consistently strong and significant with 64% (s.e.m.=0.13; Ps.e.m.=0.21; Ps.e.m.=0.41; P=0.006) for thNETs.ConclusionThe present study shows the existence of modifying genetic factors for thymus, adrenal, and pituitary MEN1 tumor types. The identification of at-risk subgroups of individuals within cohorts is the first step toward personalization of care. Next generation sequencing on this subset of tumors will help identify the molecular basis of MEN1 variable genetic expressivity.
Published: 2015
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20. p.Ala541Thr variant of MEN1 gene: A non deleterious polymorphism or a pathogenic mutation?

Author: Marine Guillaud-Bataille, Marie-Françoise Odou, Martine Cordier-Bussat, Catherine Cardot-Bauters, Philippe Ruszniewski, Valérie Hervieu, C.X. Zhang, Marie-Odile Joly, Sophie Giraud, Rosa Vargas-Poussou, Cécile Nozières, Alexandre Buffet, Alain Calender, Delphine Vezzosi, Pierre Goudet, Anne-Paule Gimenez-Roqueplo, Sophie Christin-Maitre, Stephanie Dupasquier, Lionel Groussin, Françoise Borson-Chazot, Arnaud Murat, Groupe français des tumeurs endocrines, Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de Biologie Hormonale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Tumeurs endocrines digestives : mécanismes de la tumorigenèse et de la progression tumorale, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Gastroenterology, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Beaujon [AP-HP], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL), Hôpital Cochin [AP-HP], Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), [Institut Cochin] Département Endocrinologie, métabolisme, diabète (EMD) (EMD), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Institut Cochin (UMR_S567 / UMR 8104), Service d’endocrinologie, diabétologie et maladies métaboliques [CHRU LIlle], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire Central d'Anatomie et de Cytologie Pathologiques [Hôpital Edouard Herriot - HCL], Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Université de Lyon, Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL), Centre de biologie pathologie [Lille], Institut National du Cancer [Boulogne Billancourt] (INC), Angiogenesis Imaging UMR970, Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Chirurgie Digestive, Cancérologique, Générale, Endocrinienne et Urgences (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques (CIC-EC), Université de Bourgogne (UB)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de médecine nucléaire, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Fédération d'endocrinologie, Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Stress Oxydant et Pathologies Métaboliques (SOPAM), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Fédération d'endocrinologie-Groupement hospitalier Lyon-Est, and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, endocrine system diseases, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], polymorphisme, Mice, 0302 clinical medicine, Endocrinology, Polymorphism (computer science), Missense mutation, Multiple endocrine neoplasia, Mice, Knockout, 0303 health sciences, education.field_of_study, Hyperparathyroidism, General Medicine, Middle Aged, Penetrance, 3. Good health, Phenotype, Female, Leydig Cell Tumor, Adenoma, Adult, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, medicine.medical_specialty, Population, 030209 endocrinology & metabolism, Biology, Transfection, Leydig cell tumour, 03 medical and health sciences, Cell Line, Tumor, Proto-Oncogene Proteins, Internal medicine, medicine, Multiple Endocrine Neoplasia Type 1, Animals, Humans, Pituitary Neoplasms, MEN1, penetrance, Polymorphism, education, 030304 developmental biology, Polymorphism, Genetic, néoplasie endocrinienne multiple de type 1, Wild type, medicine.disease, predisposition, Mutation, Cancer research
Abstract: International audience; ContextMultiple Endocrine Neoplasia Type 1 (MEN1) is an autosomal dominant inherited syndrome, related to mutations in the MEN1 gene. Controversial data suggest that the nonsynonymous p.Ala541Thr variant, usually considered as a non-pathogenic polymorphism, may be associated with an increased risk of MEN1-related lesions in carriers.ObjectiveThe aim of this study was to evaluate the pathogenic influence of the p.Ala541Thr variant on clinical and functional outcomes.Patients and methodsWe analysed a series of 55 index patients carrying the p.Ala541Thr variant. Their clinical profile was compared to that of 117 MEN1 patients. The biological impact of the p.Ala541Thr variant on cell growth was additionally investigated on menin-deficient Leydig cell tumour (LCT)10 cells generated from Men1+/Men1− heterozygous knock-out mice, and compared with wild type (WT).ResultsThe mean age at first appearance of endocrine lesions was similar in both p.Ala541Thr carriers and MEN1 patients, but no p.Ala541Thr patient had more than one cardinal MEN1 lesion at initial diagnosis. A second MEN1 lesion was diagnosed in 13% of MEN1 patients and in 7% of p.Ala541Thr carriers in the year following preliminary diagnosis. Functional studies on LCT10 cells showed that overexpression of the p.Ala541Thr variant did not inhibit cell growth, which is in direct contrast to results obtained from investigation of WT menin protein.ConclusionTaken together, these data raise the question of a potential pathogenicity of the p.Ala541Thr missense variant of menin that commonly occurs within the general population. Additional studies are required to investigate whether it may be involved in a low-penetrance MEN1 phenotype.; ContexteLa néoplasie endocrinienne multiple de type 1, NEM1, est une affection à transmission autosomique dominante qui associe chez un même patient ou ses apparentés des tumeurs des parathyroïdes, du pancréas endocrine et de l’hypophyse. Des données controversées suggèrent que le variant Ala541Thre pourrait avoir un rôle pathogénique, et pourrait être associé à un risque accru de développer des lésions de MEN1.ObjectifsLe but de cette étude était d’évaluer les atteintes cliniques et fonctionnelles du variant p.Ala541Thr.Patients et méthodesNous avons analysé une série de 55patients porteurs du variant p.Ala541Thr. Leur présentation clinique a été comparée à celle de 117patients MEN1. L’effet biologique de ce variant sur la croissance cellulaire a été également étudié dans un modèle cellulaire issus de tumeurs de cellules de Leydig déficientes en MEN1 (LCT10).RésultatsL’âge moyen à la première lésion est similaire dans les 2groupes p.Ala541Thr et MEN1, mais aucun des patients p.Ala541Thr n’avait plus d’une lésion au diagnostic. Une deuxième lésion a été diagnostiquée chez 13% des MEN1et 7% des p.Ala541Thr l’année qui a suivi le diagnostic initial. Les études fonctionnelles montrent que la réexpression du variant p.Ala541Thr ne permet pas d’inhiber la croissance cellulaire, contrairement à ce qui a été observé avec la protéine sauvage.ConclusionsCe travail vient perturber le concept de polymorphisme et de leur potentielle non-pathogénicité. Des études complémentaires sont cependant nécessaires afin de déterminer si ce variant peut-être impliqué dans la survenue d’un phénotype MEN1de faible pénétrance.
Published: 2014
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21. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

Author: Catherine Dodé, Michel Pugeat, Didier Dewailly, Patrice Rodien, O. Verier-Mine, Didier Lacombe, Chrystel Leroy, Jacques Young, Chantal Metz, Francois Kurtz, Séverine Marcos, Marion Gérard, Slawomir Wolczynski, Sophie Christin-Maitre, Trine Prescott, Philippe Touraine, F. Archambeaud, Hanne Buciek Hove, Sylvie Cabrol, Philippe Parent, Laurence Perrin, Julie Sarfati, Jean-Pierre Hardelin, Sylvie Hiéronimus, Eric Bieth, Corinne Fouveaut, Génétique, physiopathologie et approches thérapeutiques des maladies héréditaires du système nerveux (EA 7331), Université Paris Descartes - Paris 5 (UPD5), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Morvan [Brest], University of Bialystok, Centre Hospitalier Universitaire Clémenceau (CHU Clémenceau ), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Bel Air, CHU Valenciennes, Hôpital Robert Debré, Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Copenhagen University Hospital, Rikshospitalet, Oslo, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Hôpital l'Archet, Hôpital Jeanne de Flandre [Lille], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Génétique et Physiologie de l'Audition, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), This work was supported by grants from Agence Nationale pour la Recherche ANR-09-GENO-017-01 (to S.M., J.Y., J.-P.H., and C.D.), Groupement d'Intérêt Scientifique Maladies Rares (Project A09051KS), and the Société Française d'Endocrinologie (Pfizer Prize 2011)., ANR-09-GENO-0017,KALGENOPATH,Syndrome de Kallmann: un paradigme pour étudier l'interaction entre récepteurs couplés aux protéines G et récepteurs à activité tyrosine kinase(2009), Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de l'Audition [Paris] (IDA), and Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Clinical Biochemistry, MESH: DNA Helicases, Choanal atresia, medicine.disease_cause, Biochemistry, MESH: Genotype, CHARGE syndrome, Endocrinology, MESH: Child, Prevalence, Missense mutation, Child, Frameshift Mutation, MESH: Heterozygote, Coloboma, Mutation, MESH: Middle Aged, MESH: Frameshift Mutation, Middle Aged, 3. Good health, Pedigree, DNA-Binding Proteins, Phenotype, MESH: Young Adult, Child, Preschool, MESH: Kallmann Syndrome, Female, Congenital Hypogonadotropic Hypogonadism, Adult, medicine.medical_specialty, Heterozygote, Adolescent, Genotype, MESH: Pedigree, Mutation, Missense, Context (language use), Biology, MESH: Phenotype, Young Adult, Internal medicine, medicine, Humans, MESH: Prevalence, Family Health, MESH: Adolescent, MESH: Mutation, Missense, MESH: Humans, MESH: CHARGE Syndrome, Biochemistry (medical), MESH: Child, Preschool, DNA Helicases, MESH: Adult, Kallmann Syndrome, medicine.disease, MESH: Male, MESH: Family Health, CHARGE Syndrome, MESH: Female, MESH: DNA-Binding Proteins
Abstract: International audience; CONTEXT: Mutations in CHD7, a gene previously implicated in CHARGE (coloboma, heart defect, choanal atresia, retardation of growth and/or development, genital hypoplasia, ear anomalies) syndrome, have been reported in patients presenting with Kallmann syndrome (KS) or congenital hypogonadotropic hypogonadism (CHH). Most mutations causing CHARGE syndrome result in premature stop codons and occur de novo, but the proportion of truncating vs nontruncating mutations in KS and CHH patients is still unknown. OBJECTIVE: The objective of the study was to determine the nature, prevalence, mode of transmission, and clinical spectrum of CHD7 mutations in a large series of patients. DESIGN: We studied 209 KS and 94 CHH patients. These patients had not been diagnosed with CHARGE syndrome according to the current criteria. We searched for mutations in 16 KS and CHH genes including CHD7. RESULTS: We found presumably pathogenic mutations in CHD7 in 24 KS patients but not in CHH patients. Nontruncating mutations (16 missense and a two-codon duplication) were more prevalent than truncating mutations (three nonsense, three frame shift, and a splice site), which contrasts with patients presenting with typical CHARGE syndrome. Thus, the clinical spectrum associated with CHD7 mutations may be partly explained by genotype/phenotype correlations. Eight patients also had congenital deafness and one had a cleft lip/palate, whereas six had both. For 10 patients, the presence of diverse features of the CHARGE spectrum in at least one relative argues against a de novo appearance of the missense mutation, and this was confirmed by genetic analysis in five families. CONCLUSION: Considering the large prevalence and clinical spectrum of CHD7 mutations, it will be particularly relevant to genetic counseling to search for mutations in this gene in KS patients seeking fertility treatment, especially if KS is associated with deafness and cleft lip/palate.
Published: 2014
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22. Intraadrenal Corticotropin in Bilateral Macronodular Adrenal Hyperplasia

Author: Isabelle Boutelet, Jean-Marc Kuhn, Céline Duparc, Antoine Tabarin, Lionel Groussin, Xavier Bertagna, Jacques Young, Rossella Libé, Fabienne Grunenberger, Hervé Lefebvre, Sylvie Renouf, Youssef Anouar, Jérôme Bertherat, Philippe Caron, Milène Tetsi Nomigni, Sophie Christin-Maitre, Estelle Louiset, Zakariae Bram, Différenciation et communication neuronale et neuroendocrine (DC2N), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroendocrinologie cellulaire et moléculaire, Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR93-Université Paris-Sud - Paris 11 (UP11), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), [Institut Cochin] Département Endocrinologie, métabolisme, diabète (EMD) (EMD), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Hôpital Larrey [Toulouse], CHU Toulouse [Toulouse], Departement Endocrinologie, Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux]-CHU Bordeaux [Bordeaux], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), CHU, Hôpital Larrey, and CHU Saint-Antoine [APHP]
Subjects: Male, Pro-Opiomelanocortin, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Gene Expression, MESH: Cushing Syndrome, 0302 clinical medicine, Adrenal Glands, Medicine, MESH: Pro-Opiomelanocortin, MESH: Adrenal Glands, Cushing Syndrome, MESH: Aged, MESH: Middle Aged, biology, General Medicine, Middle Aged, Hyperplasia, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, 3. Good health, 030220 oncology & carcinogenesis, Female, hormones, hormone substitutes, and hormone antagonists, medicine.drug, Adult, Cortisol secretion, medicine.medical_specialty, endocrine system, MESH: Gastric Inhibitory Polypeptide, MESH: Gene Expression, 030209 endocrinology & metabolism, Gastric Inhibitory Polypeptide, Peptide hormone, 03 medical and health sciences, Adrenocorticotropic Hormone, Proopiomelanocortin, Internal medicine, Humans, RNA, Messenger, MESH: Adrenocorticotropic Hormone, Dexamethasone, Aged, MESH: RNA, Messenger, MESH: Humans, business.industry, MESH: Adult, medicine.disease, MESH: Male, Endocrinology, Macronodular Adrenal Hyperplasia, biology.protein, Corticotropic cell, business, MESH: Female, Hormone
Abstract: BACKGROUND Bilateral macronodular adrenal hyperplasia is a rare cause of primary adrenal Cushing’s syndrome. In this form of hyperplasia, hypersecretion of cortisol suppresses the release of corticotropin by pituitary corticotrophs, which results in low plasma corticotropin levels. Thus, the disease has been termed corticotropin-independent macronodular adrenal hyperplasia. We examined the abnormal production of corticotropin in these hyperplastic adrenal glands. METHODS We obtained specimens of hyperplastic macronodular adrenal tissue from 30 patients with primary adrenal disease. The corticotropin precursor proopiomelanocortin and corticotropin expression were assessed by means of a polymerase-chainreaction assay and immunohistochemical analysis. The production of corticotropin and cortisol was assessed in 11 specimens with the use of incubated explants and cell cultures coupled with hormone assays. Corticotropin levels were measured in adrenal and peripheral venous blood samples from 2 patients. RESULTS The expression of proopiomelanocortin messenger RNA (mRNA) was detected in all samples of hyperplastic adrenal tissue. Corticotropin was detected in steroidogenic cells arranged in clusters that were disseminated throughout the adrenal specimens. Adrenal corticotropin levels were higher in adrenal venous blood samples than in peripheral venous samples, a finding that was consistent with local production of the peptide within the hyperplastic adrenals. The release of adrenal corticotropin was stimulated by ligands of aberrant membrane receptors but not by corticotropinreleasing hormone or dexamethasone. A semiquantitative score for corticotropin immunostaining in the samples correlated with basal plasma cortisol levels. Corticotropin-receptor antagonists significantly inhibited in vitro cortisol secretion. CONCLUSIONS Cortisol secretion by the adrenals in patients with macronodular hyperplasia and Cushing’s syndrome appears to be regulated by corticotropin, which is produced by a subpopulation of steroidogenic cells in the hyperplastic adrenals. Thus, the hypercortisolism associated with bilateral macronodular adrenal hyperplasia appears to be corticotropin-dependent. (Funded by the Agence Nationale de la Recherche and others.)
Published: 2013
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23. Hormonal contraception in women at risk of vascular and metabolic disorders: guidelines of the French Society of Endocrinology

Author: Bruno Vergès, Françoise Lamiche-Lorenzini, Sophie Christin-Maitre, Véronique Kerlan, Pierre Gourdy, Sophie Catteau-Jonard, Nathalie Chabbert-Buffet, Anne Gompel, Alexandre Fredenrich, Caroline Moreau, Jacqueline Conard, Anne Vambergue, Anne Bachelot, Geneviève Plu-Bureau, Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Endocrinologie moléculaire, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hématologie Biologique, Hôpital Hôtel-Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Diabétologie-Endocrinologie (NICE - Endocrino), Centre Hospitalier Universitaire de Nice (CHU Nice), Service d'endocrinologie gynécologique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5), Centre national de référence des angioedemes, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Recherche en épidémiologie et biostatistique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Endocrinologie, diabétologie, maladies métaboliques et nutrition (LILLE - Endocrino), Service d'Endocrinologie, Diabétologie et Maladies Métaboliques (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Service d'Endocrinologie (CHRU - Endocrino), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Calvez, Ghislaine, Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Service Endocrinologie Diabétologie et Métabolisme (LILLE - Endocrino), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-Université de Brest (UBO), Institut des Maladies Métaboliques et Cardiovasculaires ( I2MC ), Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Hôpital de Rangueil, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Departments of Endocrine Gynaecology and Reproductive Medicine, Hôpital Jeanne de Flandre, Centre Hospitalier Régional Universitaire, Faculty of Medicine, Université de Lille II, Université de Lille, Droit et Santé, Gynéco - TENON ( Gynéco - TENON ), Assistance publique - Hôpitaux de Paris (AP-HP), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de Diabétologie-Endocrinologie ( NICE - Endocrino ), CHU Nice, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôtel-Dieu-Université Paris Descartes - Paris 5 ( UPD5 ), Centre de recherche en épidémiologie et santé des populations ( CESP ), Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ) -Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service Endocrinologie Diabétologie et Métabolisme ( LILLE - Endocrino ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Service de Diabétologie, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Groupe d'Etude de la Thrombose de Bretagne Occidentale ( GETBO ), Université de Brest ( UBO ), Service d'Endocrinologie ( CHRU - Endocrino ), and Centre Hospitalier Régional Universitaire de Brest ( CHRU Brest )
Subjects: MESH: Hyperlipidemias, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], MESH: Metabolic Diseases, MESH: Estrogens, 0302 clinical medicine, Endocrinology, MESH: Pregnancy, MESH : Hyperlipidemias, MESH : Lipid Metabolism, Pregnancy, Risk Factors, MESH: Risk Factors, Contraceptive Agents, Female, MESH : Contraceptive Agents, Female, MESH: Obesity, MESH : Cardiovascular Diseases, MESH : Female, 030212 general & internal medicine, MESH : Progestins, Societies, Medical, MESH: Lipid Metabolism, education.field_of_study, 030219 obstetrics & reproductive medicine, Absolute risk reduction, General Medicine, MESH : Risk Factors, MESH : Contraception, 3. Good health, [SDV] Life Sciences [q-bio], MESH : Diabetes Mellitus, Contraception, MESH : Metabolic Diseases, Family planning, Cardiovascular Diseases, MESH: Thromboembolism, MESH : Obesity, Female, France, MESH: Contraceptives, Oral, Hormonal, Developed country, MESH: Contraception, medicine.medical_specialty, MESH: Diabetes Mellitus, Population, MESH: Societies, Medical, MESH : Contraceptives, Oral, Hormonal, Context (language use), Hyperlipidemias, Thrombophilia, Contraceptives, Oral, Hormonal, 03 medical and health sciences, Metabolic Diseases, Internal medicine, Thromboembolism, medicine, Diabetes Mellitus, MESH : Societies, Medical, Humans, MESH : Endocrinology, Obesity, education, MESH : France, MESH: Endocrinology, MESH: Humans, [ SDV ] Life Sciences [q-bio], business.industry, MESH : Humans, MESH: Cardiovascular Diseases, Estrogens, medicine.disease, Lipid Metabolism, MESH : Thromboembolism, MESH: France, MESH : Pregnancy, Hormonal contraception, MESH: Progestins, MESH : Estrogens, MESH: Contraceptive Agents, Female, Progestins, business, MESH: Female, Dyslipidemia
Abstract: International audience; Hormonal contraceptive methods are widely used in France, including not only oral estrogen-progestin combinations but also non-oral estrogen-progestin delivery methods (patches, vaginal rings), as well as oral forms, implants and intra-uterine devices that deliver only a progestin. Hormonal contraception has only a modest impact on lipid and carbohydrate metabolism, but estrogen-progestin contraceptives have been linked to a variety of vascular risks. Overall, the risk of venous thrombosis is multiplied by a factor of about 4, depending on age, the compounds used, and other risk factors (including biological thrombophilia and a personal history of thrombosis), whereas the risk of arterial events is only increased in women with risk factors. Available data suggest there is no excess risk with progestin-based contraceptives, but far fewer studies have been conducted. At the initiative of the French Society of Endocrinology, an expert group met in 2010 in order to reach a consensus on the use of hormonal contraceptive methods in women with vascular or metabolic risk factors, based on available data and international guidelines published by WHO in 2009 and subsequently adapted to the United States context. The following text, intentionally limited to hormonal contraception, is intended to serve as a guide when prescribing in specific clinical situations, such as a family or personal history of arterial or venous thromboembolism, or the existence of cardiovascular risk factors (hypertension, smoking, diabetes, dyslipidemia, obesity).
Published: 2012
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24. Cardiovascular findings and management in Turner syndrome: insights from a French cohort

Author: N. Bourcigaux, Guillaume Jondeau, Carine Courtillot, Lise Duranteau, Michel Polak, Damien Bonnet, Catherine Meuleman, Jean-Claude Carel, Yves Lebouc, Philippe Chanson, L Monnier-Cholley, Sophie Christin-Maitre, Dinane Samara-Boustani, Philippe Bouchard, Laurence Iserin, Sylvie Cabrol, Juliane Léger, Bruno Donadille, Laure Cabanes, Philippe Touraine, Alexandra Rousseau, Sylvie Salenave, Delphine Zenaty, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Adult, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Turner Syndrome, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Cohort Studies, 03 medical and health sciences, Cardiovascular monitoring, Young Adult, 0302 clinical medicine, Endocrinology, Bicuspid aortic valve, Turner syndrome, Cardiac valve, medicine, Humans, Child, Aged, Body surface area, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Magnetic resonance imaging, General Medicine, Vascular surgery, Middle Aged, medicine.disease, 3. Good health, Cardiovascular Diseases, Child, Preschool, Cohort, Female, France, business, Algorithms
Abstract: ObjectiveCongenital cardiovascular malformations and aortic dilatation are frequent in patients with Turner syndrome (TS). The objective of this study was to investigate the cardiovascular findings and management in a large cohort of patients, including children and adults.Design/methodsWe recruited 336 patients with TS from a network of tertiary centers. We reviewed their files, checking for cardiovascular events, cardiac valve abnormalities, and aortic diameters indexed to body surface area (BSA) from magnetic resonance imaging (n=110) or echocardiography (n=300).ResultsInformative cardiovascular data were available for only 233 patients. Vascular surgery was reported in 7.4% of the cohort. The first cause of surgery was aortic coarctation, detected in 6.9% at a median age of 9.5 (range: 0–60) years. Bicuspid aortic valve (BAV) was detected in 21% at a median age of 20 years (25th–75th percentiles: 15–30). At least one aortic diameter exceeded 32 mm in 12% of the cohort. This was detected at a median age of 19 (7–30) years. When indexed to BSA, at least one aortic diameter exceeded 20 mm/m2 in 39% of the cohort.ConclusionOur study shows that cardiovascular monitoring for TS patients is currently insufficient in France. BAV is present at birth, but often remains undiagnosed until later in life. Therefore, improved management in cardiovascular monitoring is required and a more systematic approach should be taken.
Published: 2012
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25. Clinical characteristics and outcome of acromegaly induced by ectopic secretion of growth hormone-releasing hormone (GHRH): a French nationwide series of 21 cases

Author: Françoise Borson-Chazot, Antoine Tabarin, Olivier Chabre, Ihab Nakib, Fabrice Bonnet, Laetitia Garby, Gwenaëlle Arnault, Francine Claustrat, Hélène du-Boullay, Gérald Raverot, Arnaud Murat, Philippe Caron, Bruno Claustrat, Philippe Chanson, Geneviève Sassolas, Sophie Christin-Maitre, Vincent Rohmer, Jean-Louis Sadoul, Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL), Service d'Endocrinologie (TOULOUSE - Endocrino), CHU Toulouse [Toulouse], Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR93-Université Paris-Sud - Paris 11 (UP11), Service d'Endocrinologie (BORDEAUX - Endocrino), CHU Bordeaux [Bordeaux], Biologie du Cancer et de l'Infection (BCI ), Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie des maladies génétiques d'expression pédiatrique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service d'Endocrinologie (NICE - Endocrino), Centre Hospitalier Universitaire de Nice (CHU Nice), registre rhone-alpin du cancer de la thyroide, Eq 4, Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Centre de médecine nucléaire, Fédération d'endocrinologie-Groupement hospitalier Lyon-Est-Fédération d'endocrinologie-Groupement hospitalier Lyon-Est, Service Endocrinologie, maladies métaboliques et nutrition [CHU Toulouse], Pôle Cardiovasculaire et Métabolique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Scanella, Marie-Pierre
Subjects: Endoscopic ultrasound, Male, MESH: Registries, MESH: Carcinoid Tumor, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Neuroendocrine tumors, Growth Hormone-Releasing Hormone, Biochemistry, 0302 clinical medicine, Endocrinology, MESH: Growth Hormone-Releasing Hormone, Medicine, Registries, MESH: Bronchial Neoplasms, MESH: Treatment Outcome, MESH: Aged, Sermorelin, MESH: Middle Aged, medicine.diagnostic_test, Bronchial Neoplasms, MESH: Follow-Up Studies, Middle Aged, Growth hormone–releasing hormone, Prognosis, 3. Good health, Neuroendocrine Tumors, medicine.anatomical_structure, Somatostatin, Treatment Outcome, MESH: Growth Hormone-Secreting Pituitary Adenoma, 030220 oncology & carcinogenesis, Female, France, MESH: Pancreatic Neoplasms, Pancreas, hormones, hormone substitutes, and hormone antagonists, medicine.drug, Adult, medicine.medical_specialty, endocrine system, Adolescent, MESH: Neuroendocrine Tumors, MESH: Multiple Endocrine Neoplasia Type 1, 030209 endocrinology & metabolism, Context (language use), [SDV.CAN]Life Sciences [q-bio]/Cancer, Carcinoid Tumor, MESH: Prognosis, 03 medical and health sciences, [SDV.CAN] Life Sciences [q-bio]/Cancer, Internal medicine, Acromegaly, Multiple Endocrine Neoplasia Type 1, Humans, Pituitary Neoplasms, MESH: Pituitary Neoplasms, Aged, MESH: Adolescent, MESH: Humans, business.industry, Biochemistry (medical), MESH: Adult, medicine.disease, MESH: Male, Pancreatic Neoplasms, MESH: France, Growth Hormone-Secreting Pituitary Adenoma, business, MESH: Acromegaly, MESH: Female, Follow-Up Studies
Abstract: International audience; CONTEXT: Ectopic GHRH secretion is a rare cause of acromegaly, and case reports are mainly isolated. SETTING: From the registry of the sole laboratory performing plasma GHRH assays in France, we identified cases of ectopic GHRH secretion presenting with acromegaly between 1983 and 2008. PATIENTS: Twenty-one patients aged 14-77 yr were identified from 12 French hospitals. Median GHRH was 548 (270-9779) ng/liter. MAIN OUTCOME MEASURES: Outcome measures included description of tumor features and outcome and the relation between plasma GHRH values and tumor site, size, and spread. RESULTS: The primary neuroendocrine tumor was identified for 20 of 21 patients (12 pancreatic, seven bronchial, one appendicular). Tumors were large (10-80 mm), identified on computed tomography scan in 18 cases and by endoscopic ultrasound and somatostatin receptor scintigraphy in two. Somatostatin receptor scintigraphy had a similar sensitivity to computed tomography scan (81 vs. 86%). Tumors were all well differentiated; 47.6% had metastasized at the time of diagnosis of acromegaly. After a median follow-up of 5 yr, 85% of patients were alive. Ninety-one percent of patients whose tumor was completely removed were considered in remission, and most had normalized plasma GHRH. The remaining patients were treated with somatostatin analogs: IGF-I normalized except for one patient who required pegvisomant, but GHRH levels remained elevated. No correlations were found between GHRH levels and tumor site or size or the existence of metastases. Identification of increased plasma GHRH during follow-up was an accurate indicator of recurrence. CONCLUSIONS: The prognosis of endocrine tumors responsible for GHRH secretion appears relatively good. Plasma GHRH assay is an accurate tool for diagnosis and follow-up.
Published: 2012
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26. Corrélation génotype - phénotype chez 90 patientes atteintes d'un syndrome de Turner

Author: Graff, Aurélie, Université de Picardie Jules Verne (UPJV), and Sophie Christin-Maitre
Subjects: Médecine prédictive, Phénotype, Caryotypes, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Syndrome de Turner-Albright
Abstract: Le syndrome de Turner (ST) défini par la perte complète ou partielle d'un des deux chromosomes X, est diagnostiqué le plus souvent sur un caryotype sanguin. On observe souvent une petite taille, une dysgénésie gonadique et un syndrome malformatif. L'objectif principal de l'étude est de comparer chez des femmes avec un ST le caryotype lymphocytaire et jugal. L'objectif secondaire est de corréler les résultats des différents caryotypes au phénotype clinique. Une étude de cohorte rétrospective a été réalisée entre juillet 2017 et juillet 2018 au sein du service d'endocrinologie de l'hôpital Saint Antoine, à Paris, sur 90 patientes atteintes d'un ST. Des caryotypes sur lymphocytes sanguins et sur cellules buccales ont été réalisés et les données phénotypiques recueillies grâce au dossier informatisé. Dans les mosaïques, le pourcentage de cellules 45,X était de 66,7 ± 34,2% en sanguin et de 64,7 ± 34,4% sur le caryotype jugal (p = 0,91). Le taux de matériel Y détecté est supérieur dans le caryotype sanguin versus le caryotype jugal (p = 0,03). Une corrélation positive existait entre le phénotype et le taux de cellules 45,X au caryotype jugal pour l'IOP, la bicuspidie et coarctation aortique, la mesure de l'index aortique et l'hypoacousie (p
Published: 2018

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26 results on '"Sophie Christin-Maitre"'

1. Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients

2. Reply of the Authors: Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge

3. Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families

4. Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)

5. Prevalence and progression of aortic dilatation in adult patients with Turner syndrome: a cohort study

6. Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome

7. Gonad differentiation toward ovary

8. Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

9. Cortisol and Aldosterone Responses to Hypoglycemia and Na Depletion in Women With Non-Classic 21-Hydroxylase Deficiency

10. Monogenic forms of lipodystrophic syndromes - diagnosis, detection, and practical management considerations from clinical cases

11. MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome

12. How can we make pregnancy safe for women with Turner syndrome?

13. MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

14. Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

15. Complex Association of Sex Hormones on Left Ventricular Systolic Function: Insight into Sexual Dimorphism

16. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association

17. Gangliocytoma: outcome of a rare silent pituitary tumour

18. French law: what about a reasoned reimbursement of serum vitamin D assays?

19. Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

20. p.Ala541Thr variant of MEN1 gene: A non deleterious polymorphism or a pathogenic mutation?

21. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

22. Intraadrenal Corticotropin in Bilateral Macronodular Adrenal Hyperplasia

23. Hormonal contraception in women at risk of vascular and metabolic disorders: guidelines of the French Society of Endocrinology

24. Cardiovascular findings and management in Turner syndrome: insights from a French cohort

25. Clinical characteristics and outcome of acromegaly induced by ectopic secretion of growth hormone-releasing hormone (GHRH): a French nationwide series of 21 cases

26. Corrélation génotype - phénotype chez 90 patientes atteintes d'un syndrome de Turner

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