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1. Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype

Author: Daphné Karila, Bruno Donadille, Juliane Léger, Claire Bouvattier, Anne Bachelot, Veronique Kerlan, Sophie Catteau-Jonard, Sylvie Salenave, Frédérique Albarel, Claire Briet, Regis Coutant, Aude Brac De La Perriere, Alexander Valent, Jean-Pierre Siffroi, Sophie Christin-Maitre, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Saint-Antoine [AP-HP], Service d'endocrinologie diabétologie pédiatrique [CHU Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), National Reference Network DSD DevGen, Service d'endocrinologie pédiatrique [CHU Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Lille, Université de Lille, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Endocrinologie, diabète, maladies métaboliques (CHU Marseille, AP-HM), Assistance Publique - Hôpitaux de Marseille (APHM), Centre de référence des maladies rares de l'hypophyse (HYPO), Service d'Endocrinologie, Diabète et Maladies Métaboliques, Endocrinologie pédiatrique[CHU Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR), Analyse moléculaire, modélisation et imagerie de la maladie cancéreuse (AMMICa), Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), 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], Centre de référence des Maladies Endocriniennes Rares de la Croissance [CHU Saint-Antoine AP-HP] (CRMERC), Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], Centre de référence des maladies endocriniennes rares de la croissance et du développement [CHU Pitié-Salpêtrière], Service d'Endocrinologie et Médecine de la Reproduction [CHU Pitié-Salpêtrière], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), UF de Génétique chromosomique [CHU Trousseau], and Couvet, Sandrine
Subjects: Adult, Ovarian Neoplasms, Adolescent, Mosaicism, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Karyotype, Turner Syndrome, General Medicine, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV] Life Sciences [q-bio], Young Adult, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Prevalence, Humans, Female, Gonadoblastoma, Child, Follow-Up Studies
Abstract: Introduction A gonadectomy is currently recommended in patients with Turner syndrome (TS) and a 45,X/46,XY karyotype, due to a potential risk of gonadoblastoma (GB). However, the quality of evidence behind this recommendation is low. Objective This study aimed to evaluate the prevalence of GB, its characteristics, as well as its risk factors, according to the type of Y chromosomal material in the karyotype. Methods Our study within French rare disease centers included patients with TS and a 45,X/46,XY karyotype, without ambiguity of external genitalia. Clinical characteristics of the patients, their age at gonadectomy, and gonadal histology were recorded. The regions of the Y chromosome, the presence of TSPY regions, and the percentage of 45,X/46,XY mosaicism were evaluated. Results A total of 70 patients were recruited, with a median age of 29.5 years (21.0–36.0) at the end of follow-up. Fifty-eight patients had a gonadectomy, at a mean age of 15 ± 8 years. GB was present in nine cases. Two were malignant, which were discovered at the age of 14 and 32 years, without metastases. Neither the percentage of XY cells within the 45,X/46,XY mosaicism nor the number of TSPY copies was statistically different in patients with or without GB (P = 0.37). However, the entire Y chromosome was frequent in patients with GB (6/9). Conclusions In our study, including a large number of patients with 45,X/46,XY TS, the prevalence of gonadoblastoma is 12.8%. An entire Y chromosome appears as the main risk factor of GB and should favor early gonadectomy. Significant statement About 10% of patients with TS have a karyotype containing Y chromosomal material: 45,X/46,XY. Its presence is related to the risk of GB. Therefore, a prophylactic gonadectomy is currently recommended in such patients. However, the quality of evidence is low. Our objective was to evaluate the prevalence of GB according to the type of Y-chromosomal material. We found a prevalence of GB of 12.8% in a cohort of 70 TS patients. No sign of hyperandrogenism was observed. The entire Y chromosome was the most frequent type of Y-material in patients with GB. As the prognosis of these tumors was good, a delay of surgery might be discussed.
Published: 2022
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2. Adherence to growth hormone therapy guidelines in a real-world French cohort of adult patients with growth hormone deficiency

Author: Aude Brac de la Perriere, Beatrice Villette, Françoise Borson-Chazot, Olivier Chabre, Yves Reznik, Evguenia Hacques, Véronique Kerlan, Marc Klein, and Sylvie Salenave
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Waist, Adolescent, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Growth hormone, Hypopituitarism, Growth hormone deficiency, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Patient age, medicine, Humans, Drug Dosage Calculations, Practice Patterns, Physicians', Aged, Dose-Response Relationship, Drug, Adult patients, Human Growth Hormone, business.industry, General Medicine, Middle Aged, medicine.disease, Clinical trial, Somatropin, 030220 oncology & carcinogenesis, Cohort, Female, France, Guideline Adherence, business, Follow-Up Studies
Abstract: Objective Using real-world data from patients with growth hormone deficiency (GHD), we evaluated whether clinical practice in France adheres to international guidelines regarding somatropin dose adjustment, and assessed the long-term effectiveness and safety of somatropin. Methods Data were obtained from a national prospective systematic longitudinal routine follow-up programme of naive/non-naive adults with childhood-onset (CO) or adult-onset (AO) GHD treated with Norditropin® (Novo Nordisk A/S). Results Between 2003 and 2006, 331 treatment-naive and non-naive adults with severe GHD were enrolled and followed for a median duration of approximately 5 years; 328 patients were available for analysis. At baseline, mean patient age was 39.2 years; median standard deviation score (SDS) for insulin-like growth factor−1 (IGF-1) level was −2.2 in naive patients, subsequently fluctuating between −0.1 and +0.3 SDS during the study period. Mean GH doses ranged between 0.25 and 0.51 mg/day (naive patients) and 0.39 and 0.46 mg/day (non-naive patients). Despite generally receiving a higher somatropin dose, women (naive/non-naive) tended to have lower IGF-1 levels than men. Median somatropin dose was consistently higher in patients with CO-GHD than patients with AO-GHD. Extreme IGF-1 values ( + 2 SDS) were not systematically accompanied by somatropin dose adjustments. Waist circumference improved in approximately one third of patients, at a mean 3.5 years. Somatropin was well tolerated; there were no cardiovascular or cerebrovascular events during the 5-year analysis period. Conclusion Current clinical practice of physicians in France follows international guidelines regarding somatropin dose adjustment in adults with GHD. However, dose adjustments are not always sufficient, notably in women, and treatment effects may have been delayed due to low somatropin dose (Clinical trial registration NCT01580605 ).
Published: 2021
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3. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Author: Abdelkader Heddar, Cagri Ogur, Sabrina Da Costa, Inès Braham, Line Billaud-Rist, Necati Findikli, Claire Beneteau, Rachel Reynaud, Khaled Mahmoud, Stéphanie Legrand, Maud Marchand, Isabelle Cedrin-Durnerin, Adèle Cantalloube, Maeliss Peigne, Marion Bretault, Benedicte Dagher-Hayeck, Sandrine Perol, Celine Droumaguet, Sabri Cavkaytar, Carole Nicolas-Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier-LeMasle, Melanie Fradin, Elsa Le Boette, Perrine Luigi, Anne-Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anais Fauconnier, Nathalie Auger, Françoise Paris, Elise Brischoux-Boucher, Christelle Cabrol, Aurore Brun, Laura Guyon, Melanie Berard, Axelle Riviere, Nicolas Gruchy, Sylvie Odent, Brigitte Gilbert-Dussardier, Bertrand Isidor, Juliette Piard, Laetitia Lambert, Samir Hamamah, Anne Marie Guedj, Aude Brac de la Perriere, Hervé Fernandez, Marie-Laure Raffin-Sanson, Michel Polak, Hélène Letur, Sylvie Epelboin, Genevieve Plu-Bureau, Sławomir Wołczyński, Sylvie Hieronimus, Kristiina Aittomaki, Sophie Catteau-Jonard, Micheline Misrahi, Medicum, Research Programs Unit, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, Physiopathologie et traitement des maladies du foie, Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Nice (CHU Nice), Hôpital Cochin [AP-HP], Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Jean Verdier [AP-HP], Service d’endocrinologie et nutrition [AP-HP Ambroise-Paré], Hôpital Ambroise Paré [AP-HP], Unité de Gynécologie Médicale, AP-HP, Hôpital Port-Royal, Université de Paris, Service de médecine interne [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service d'endocrinologie [CHU Nice], CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU de Saint-Brieuc, Centre Hospitalier Antibes - Juan-les-Pins, Cancer and Brain Genomics (CBG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Centre Hospitalier de Mulhouse, site du Hasenrain (Mulhouse), CIC Saint Etienne, Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Nord (Saint Etienne), Institut Gustave Roussy (IGR), Génétique (Biologie pathologie), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Développement Embryonnaire, Fertilité et Environnement (DEFE), 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)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de génétique clinique [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Centre de génétique humaine [CHRU Besançon], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Hôpital Foch [Suresnes], Centre hospitalier de Pau, CHU Lille, This study was supported by Université Paris Sud-Paris Saclay, Hôpitaux Universitaires Paris Saclay (AH, MM), the Institut National de la Santé et de la Recherche Médicale-INSERM (AH, MM), and by the Agence Nationale de Biomédecine (AH, MM)., Hôpital Bicêtre, Hôpital Paul Brousse, Yildiz Technical University (YTU), Aix Marseille Université (AMU), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Üsküdar university, Centre Hospitalier Alpes Léman (CHAL), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Université de Poitiers, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Université de Montpellier (UM), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Polyclinique de Navarre, Partenaires INRAE, Medical University of Białystok (MUB), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, and Université de Lille
Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics, Post-translational regulation, DNA repair genes, Mitophagy, 1184 Genetics, developmental biology, physiology, NF-kappa B, General Medicine, Nf-kb, Primary Ovarian Insufficiency, Personalized medicine, General Biochemistry, Genetics and Molecular Biology, Mitomycins, Meiosis, Molecular pathophysiology, Genetic, Infertility, Humans, Female, 3111 Biomedicine, Precision Medicine
Abstract: Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yield-ing infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unravel its molecular pathophysiology.Methods 375 patients with 70 families were studied using targeted (88 genes) or whole exome sequencing with pathogenic/likely-pathogenic variant selection. Mitomycin-induced chromosome breakages were studied in patients' lymphocytes if necessary. Findings A high-yield of 29.3% supports a clinical genetic diagnosis of POI. In addition, we found strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI: ELAVL2, NLRP11, CENPE, SPATA33, CCDC150, CCDC185, including DNA repair genes: C17orf53(HROB), HELQ, SWI5 yielding high chromo-somal fragility. We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously reported in isolated patients/families. In 8.5% of cases, POI is the only symptom of a multi-organ genetic disease. New pathways were identified: NF-kB, post-translational regulation, and mitophagy (mitochondrial autophagy), providing future therapeutic targets. Three new genes have been shown to affect the age of natural menopause supporting a genetic link.Interpretation We have developed high-performance genetic diagnostic of POI, dissecting the molecular pathogene-sis of POI and enabling personalized medicine to i) prevent/cure comorbidities for tumour/cancer susceptibility genes that could affect life-expectancy (37.4% of cases), or for genetically-revealed syndromic POI (8.5% of cases), ii) predict residual ovarian reserve (60.5% of cases). Genetic diagnosis could help to identify patients who may benefit from the promising in vitro activation-IVA technique in the near future, greatly improving its success in treating infertility.Funding Universite? Paris Saclay, Agence Nationale de Biome?decine.Copyright (c) 2022 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)
Published: 2022
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4. Female sex and angiotensin-converting enzyme (ace) insertion/deletion polymorphism amplify the effects of adiposity on blood pressure

Author: Martina Chiriacò, Domenico Tricò, Simone Leonetti, John R. Petrie, Beverley Balkau, Kurt Højlund, Zoltan Pataky, Peter M Nilsson, Andrea Natali, R.J. Heine, J. Dekker, S. de Rooij, G. Nijpels, W. Boorsma, A. Mitrakou, S. Tournis, K. Kyriakopoulou, P. Thomakos, N. Lalic, K. Lalic, A. Jotic, L. Lukic, M. Civcic, J. Nolan, T.P. Yeow, M. Murphy, C. DeLong, G. Neary, M.P. Colgan, M. Hatunic, T. Konrad, H. Böhles, S. Fuellert, F. Baer, H. Zuchhold, A. Golay, E. Harsch Bobbioni, V. Barthassat, V. Makoundou, T.N.O. Lehmann, T. Merminod, C. Perry, F. Neary, C. MacDougall, K. Shields, L. Malcolm, M. Laakso, U. Salmenniemi, A. Aura, R. Raisanen, U. Ruotsalainen, T. Sistonen, M. Laitinen, H. Saloranta, S.W. Coppack, N. McIntosh, J. Ross, L. Pettersson, P. Khadobaksh, M. Laville, F. Bonnet, A. Brac de la Perriere, C. Louche-Pelissier, C. Maitrepierre, J. Peyrat, S. Beltran, A. Serusclat, R. Gabriel, E.M. Sánchez, R. Carraro, A. Friera, B. Novella, P. Nilsson, M. Persson, G. Östling, O. Melander, P. Burri, P.M. Piatti, L.D. Monti, E. Setola, E. Galluccio, F. Minicucci, A. Colleluori, M. Walker, I.M. Ibrahim, M. Jayapaul, D. Carman, C. Ryan, K. Short, Y. McGrady, D. Richardson, H. Beck-Nielsen, P. Staehr, V. Vestergaard, C. Olsen, L. Hansen, G.B. Bolli, F. Porcellati, C. Fanelli, P. Lucidi, F. Calcinaro, A. Saturni, E. Ferrannini, E. Muscelli, S. Pinnola, M. Kozakova, A. Casolaro, B.D. Astiarraga, G. Mingrone, C. Guidone, A. Favuzzi, P. Di Rocco, C. Anderwald, M. Bischof, M. Promintzer, M. Krebs, M. Mandl, A. Hofer, A. Luger, W. Waldhäusl, M. Roden, J.M. Dekker, A. Mari, J. Petrie, P. Gaffney, G. Boran, A. Kok, S. Patel, A. Gastaldelli, D. Ciociaro, M.T. Guillanneuf, L. Mhamdi, L. Landucci, S. Hills, L. Mota, G. Pacini, C. Cavaggion, A. Tura, and S.A. Hills
Subjects: Adult, Male, medicine.medical_specialty, Genotype, Blood Pressure, Peptidyl-Dipeptidase A, Polymorphism, Single Nucleotide, Body Mass Index, angiotensin-converting enzyme, Sex Factors, INDEL Mutation, Polymorphism (computer science), Internal medicine, Internal Medicine, Sex characteristics, Medicine, Insertion deletion, Humans, Genetic Predisposition to Disease, Body mass index, Adiposity, biology, business.industry, Female sex, Angiotensin-converting enzyme, Middle Aged, Pathophysiology, Endocrinology, Blood pressure, Hypertension, biology.protein, Waist circumference, Female, sex characteristics, Waist Circumference, business, adiposity, blood pressure, body mass index, waist circumference
Abstract: The pathophysiological link between adiposity and blood pressure is not completely understood, and evidence suggests an influence of sex and genetic determinants. We aimed to identify the relationship between adiposity and blood pressure, independent of a robust set of lifestyle and metabolic factors, and to examine the modulating role of sex and Angiotensin-Converting Enzyme (ACE) insertion/deletion (I/D) polymorphisms. In the Relationship Between Insulin Sensitivity and Cardiovascular Disease (RISC) study cohort, 1211 normotensive individuals, aged 30 to 60 years and followed-up after 3.3 years, were characterized for lifestyle and metabolic factors, body composition, and ACE genotype. Body mass index (BMI) and waist circumference (WC) were independently associated with mean arterial pressure, with a stronger relationship in women than men (BMI: r =0.40 versus 0.30; WC: r =0.40 versus 0.30, both P ID and II ACE genotypes in both sexes ( P ACE genotype only in women ( P =0.03). A 5 cm larger WC at baseline increased the risk of developing hypertension at follow-up only in women (odds ratio, 1.56 [95% CI, 1.15–2.10], P =0.004) and in II genotype carriers (odds ratio, 1.87 [95% CI, 1.09–3.20], P =0.023). The hypertensive effect of adiposity is more pronounced in women and in people carrying the II variant of the ACE genotype, a marker of salt sensitivity.
Published: 2022
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5. Exposure to Glucocorticoids in the First Part of Fetal Life is Associated with Insulin Secretory Defect in Adult Humans

Author: Tiphaine Vidal-Trecan, B. Blondeau, Véronique Tardy-Guidollet, Jean-Pierre Riveline, Baz Baz, Sabrina Fetita, Philippe Boudou, Fidaa Ibrahim, Yves Morel, J.-L. Nguewa, Eric Vicaut, Aude Brac de la Perriere, Jean-François Gautier, and Bernadette Breant
Subjects: Adult, Blood Glucose, Male, 0301 basic medicine, medicine.medical_specialty, Offspring, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Clinical Biochemistry, 030209 endocrinology & metabolism, Biochemistry, Dexamethasone, Islets of Langerhans, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Pregnancy, Risk Factors, Internal medicine, Insulin Secretion, Humans, Insulin, Medicine, Glucocorticoids, Fetal Therapies, Fetus, Adrenal Hyperplasia, Congenital, business.industry, Biochemistry (medical), Glucagon secretion, Glucose Tolerance Test, Virilism, 030104 developmental biology, Diabetes Mellitus, Type 2, Case-Control Studies, Prenatal Exposure Delayed Effects, Glucose Clamp Technique, Gestation, Female, business, Body mass index, Glucocorticoid, medicine.drug
Abstract: Objective High glucocorticoid levels in rodents inhibit development of beta cells during fetal life and lead to insulin deficiency in adulthood. To test whether similar phenomena occur in humans, we compared beta-cell function in adults who were exposed to glucocorticoids during the first part of fetal life with that of nonexposed subjects. Research Design and Methods The study was conducted in 16 adult participants exposed to glucocorticoids during the first part of fetal life and in 16 nonexposed healthy participants with normal glucose tolerance who were matched for age, sex, and body mass index (BMI). Exposed participants had been born to mothers who were treated with dexamethasone 1 to 1.5 mg/day from the sixth gestational week (GW) to prevent genital virilization in children at risk of 21-hydroxylase deficiency. We selected offspring of mothers who stopped dexamethasone before the 18th GW following negative genotyping of the fetus. Insulin and glucagon secretion were measured during an oral glucose tolerance test (OGTT) and graded intravenous (IV) glucose and arginine tests. Insulin sensitivity was measured by hyperinsulinemic-euglycemic-clamp. Results Age, BMI, and anthropometric characteristics were similar in the 2 groups. Insulinogenic index during OGTT and insulin sensitivity during the clamp were similar in the 2 groups. In exposed subjects, insulin secretion during graded IV glucose infusion and after arginine administration decreased by 17% (P = 0.02) and 22% (P = 0.002), respectively, while glucagon secretion after arginine increased. Conclusion Overexposure to glucocorticoids during the first part of fetal life is associated with lower insulin secretion at adult age, which may lead to abnormal glucose tolerance later in life.
Published: 2019
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6. X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Author: Elodie Fiot, Delphine Zénaty, Priscilla Boizeau, Jérémie Haignere, Sophie Dos Santos, Juliane Léger, J C Carel, S Cabrol, P Chanson, S Christin-Maitre, C Courtillot, B Donadille, J Dulon, M Houang, M Nedelcu, I Netchine, M Polak, S Salenave, D Samara-Boustani, D Simon, P Touraine, M Viaud, H Bony, K Braun, R Desailloud, A M Bertrand, B Mignot, F Schillo, P Barat, V Kerlan, C Metz, E Sonnet, Y Reznik, V Ribault, H Carla, I Tauveron, C Bensignor, F Huet, B Verges, O Chabre, C Dupuis, A Spiteri, M Cartigny, C Stuckens, J Weill, A Lienhardt, C Naud-Saudreau, F Borson-Chazot, A Brac de la Perriere, M Pugeat, T Brue, R Reynaud, G Simonin, F Paris, C Sultan, B Leheup, G Weryha, S Baron, B Charbonnel, S Dubourdieu, E Baechler, P Fenichel, K Wagner, F Compain, H Crosnier, C Personnier, B Delemer, A C Hecart, P F Souchon, M De Kerdanet, F Galland, S Nivot-Adamiak, M Castanet, C Lecointre, O Richard, N Jeandidier, S Soskin, P Lecomte, M Pepin-Donat, P Pierre, 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 Cité (UPCité), Service de pédiatrie générale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - École de sages-femmes Baudelocque (UPD ESF Baudelocque), Université Paris Descartes - Paris 5 (UPD5), Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), French Turner Syndrome Study Group, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Amiens-Picardie, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Nutrition et Neurobiologie intégrée (NutriNeuro), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1 (UB)-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, 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), Service d'endocrinologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Unité de nutrition et métabolisme protéique, Institut National de la Recherche Agronomique (INRA), Lipides - Nutrition - Cancer (U866) (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-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), Service d'Endocrinologie (GRENOBLE - Endocrino), CHU Grenoble, Department of Geology and Applied Geology, University of Mons [Belgium] (UMONS), 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), 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), 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), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), European Organization for Nuclear Research (CERN), Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), 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), Rouen University Hospital, Laboratoire d'ingénierie circulation transports (LICIT), Institut National de Recherche sur les Transports et leur Sécurité (INRETS)-École Nationale des Travaux Publics de l'État (ENTPE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université de Paris (UP), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), 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, 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 National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université de Paris, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris]-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital universitaire Robert-Debré [Paris], École de sages-femmes Baudelocque (ESF Baudelocque), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris, Laboratoire de Physique Corpusculaire - Clermont-Ferrand (LPC), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire d'Amiens (CHU Amiens-Picardie), Hôpital Jean Minjoz, Nutrition et Neurobiologie intégrée (NutriNeur0), Ecole nationale supérieure de chimie, biologie et physique-Institut Polytechnique de Bordeaux-Université Sciences et Technologies - Bordeaux 1-Institut National de la Recherche Agronomique (INRA)-Université Bordeaux Segalen - Bordeaux 2, Université de Brest (UBO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers (CRCINA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Grand Accélérateur National d'Ions Lourds (GANIL), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPC), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC)
Subjects: Adult, Heart Defects, Congenital, medicine.medical_specialty, Pediatrics, Adolescent, Endocrinology, Diabetes and Metabolism, Karyotype, Ring chromosome, Gene Dosage, Turner Syndrome, 030209 endocrinology & metabolism, Comorbidity, Type 2 diabetes, Kidney, Y chromosome, Congenital Abnormalities, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Risk Factors, Internal medicine, Turner syndrome, MESH: Chromosome, Human, X/genetics, Congenital Abnormalities/genetics, Kidney Diseases/epidemiology, Turner Syndrome/genetics, medicine, Humans, Cumulative incidence, Child, 030223 otorhinolaryngology, X chromosome, Retrospective Studies, Chromosomes, Human, X, [SDV.GEN]Life Sciences [q-bio]/Genetics, Mosaicism, business.industry, Age Factors, Retrospective cohort study, General Medicine, medicine.disease, 3. Good health, Female, Kidney Diseases, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: ObjectiveTurner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions and to determine whether the frequencies of congenital and acquired conditions depend on X chromosome gene dosage, as a function of karyotype subgroup.Design and methodsThis national retrospective observational cohort study includes 1501 patients. We evaluated the prevalence of congenital malformations and the cumulative incidence of subsequent specific comorbidities at five-year intervals, from the ages of 10 to 30 years, with stratification by karyotype subgroup: 45,X (n = 549), 45,X/46,isoXq (n = 280), 46,X,r(X)/46,XX (n = 106), 45,X/46,XX (n = 221), presence of Y (n = 87).ResultsMedian age was 9.4 (3.7–13.7) years at first evaluation and 16.8 (11.2–21.4) years at last evaluation. Congenital heart (18.9%) malformations were more frequent in 45,X patients, and congenital renal (17.2%) malformations were more frequent in 45,X, 45,X/46,isoXq and 46,X,r(X)/46,XX patients than in those with 45,X/46,XX mosaicism or a Y chromosome (P ConclusionThese data suggest that X gene chromosome dosage, particularly for Xp genes, contributes to the risk of developing comorbidities.
Published: 2019
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7. Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia

Author: Alessandro Prete, F. Peter Treasure, Nicole Reisch, Wiebke Arlt, John Porter, Aude Brac de la Perriere, Colin Perry, Angelica Lindén Hirschberg, Richard J. Ross, Ashwini Mallappa, Philippe Touraine, Deborah P. Merke, Anders Juul, Nike M. M. L. Stikkelbroeck, Kerry Maltby, D. Aled Rees, John Newell-Price, National Institutes of Health [Bethesda] (NIH), Queens Elizabeth Hospital [Birmingham], University of Birmingham [Birmingham], Hospices Civils de Lyon (HCL), Karolinska University Hospital [Stockholm], Rigshospitalet [Copenhagen], Copenhagen University Hospital, University of Sheffield [Sheffield], Queen Elizabeth University Hospital (Glasgow), Cardiff University, University-Hospital Munich-Großhadern [München], Radboud University Medical Centre [Nijmegen, The Netherlands], Service d’endocrinologie et médecine de la reproduction [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), Diurnal Ltd, and University of Cambridge [UK] (CAM)
Subjects: Male, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Anti-Inflammatory Agents, Phases of clinical research, Biochemistry, Gastroenterology, 0302 clinical medicine, Endocrinology, 030212 general & internal medicine, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Prognosis, 3. Good health, Tolerability, Female, adrenal insufficiency, Glucocorticoid, AcademicSubjects/MED00250, medicine.drug, Cortisol secretion, Adult, medicine.medical_specialty, 030209 endocrinology & metabolism, Context (language use), 21-hydroxylase deficiency, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, Internal medicine, Adrenal insufficiency, medicine, congenital adrenal hyperplasia, Humans, Congenital adrenal hyperplasia, hydrocortisone, Online Only Articles, Clinical Research Articles, Aged, Hydrocortisone, Adrenal Hyperplasia, Congenital, business.industry, Biochemistry (medical), medicine.disease, glucocorticoid, business, Follow-Up Studies
Abstract: Context Standard glucocorticoid therapy in congenital adrenal hyperplasia (CAH) regularly fails to control androgen excess, causing glucocorticoid overexposure and poor health outcomes. Objective We investigated whether modified-release hydrocortisone (MR-HC), which mimics physiologic cortisol secretion, could improve disease control. Methods A 6-month, randomized, phase 3 study was conducted of MR-HC vs standard glucocorticoid, followed by a single-arm MR-HC extension study. Primary outcomes were change in 24-hour SD score (SDS) of androgen precursor 17-hydroxyprogesterone (17OHP) for phase 3, and efficacy, safety and tolerability of MR-HC for the extension study. Results The phase 3 study recruited 122 adult CAH patients. Although the study failed its primary outcome at 6 months, there was evidence of better biochemical control on MR-HC, with lower 17OHP SDS at 4 (P = .007) and 12 (P = .019) weeks, and between 07:00h to 15:00h (P = .044) at 6 months. The percentage of patients with controlled 09:00h serum 17OHP ( Conclusion MR-HC improved biochemical disease control in adults with reduction in steroid dose over time and patient-reported benefit.
Published: 2021
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8. 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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9. One hour post-load plasma glucose and 3 year risk of worsening fasting and 2 hour glucose tolerance in the RISC cohort

Author: Manco, Melania, Mari, Andrea, Petrie, John, Mingrone, Geltrude, Balkau, Beverley, Amsterdam, for the EGIR-RISC study group., Heine, Rj, Dekker, J, S de Rooij, Nijpels, G, W Boorsma Athens, Greece:, A Mitrakou, Tournis, S, Kyriakopoulou, K, P Thomakos Belgrade, Serbia:, N Lalic, Lalic, K, Jotic, A, Lukic, L, M Civcic Dublin, Ireland:, J Nolan, Yeow, Tp, Murphy, M, Delong, C, Neary, G, Colgan, Mp, M Hatunic Frankfurt, Germany:, T Konrad, Böhles, H, Fuellert, S, Baer, F, H Zuchhold Geneva, Switzerland:, A Golay, E Harsch Bobbioni, Barthassat, V, Makoundou, V, Tno, Lehmann, T Merminod Glasgow, Scotland, UK: JR Petrie, Perry, C, Neary, F, Macdougall, C, Shields, K, L Malcolm Kuopio, Finland:, M Laakso, Salmenniemi, U, Aura, A, Raisanen, R, Ruotsalainen, U, Sistonen, T, Laitinen, M, H Saloranta London, England, UK: SW Coppack, Mcintosh, N, Ross, J, Pettersson, L, P Khadobaksh Lyon, France:, M Laville, F Bonnet (now Rennes), A Brac de la Perriere, Louche-Pelissier, C, Maitrepierre, C, Peyrat, J, Beltran, S, A Serusclat Madrid, Spain:, R Gabriel, Sánchez, Em, Carraro, R, Friera, A, B Novella Malmö, Sweden (1):, P Nilsson, Persson, M, G Östling (2):, O Melander, P Burri Milan, Italy: PM Piatti, Monti, Ld, Setola, E, Galluccio, E, Minicucci, F, A Colleluori Newcastle-upon-Tyne, Uk:, M Walker, Ibrahim, Im, Jayapaul, M, Carman, D, Ryan, C, Short, K, Mcgrady, Y, D Richardson Odense, Denmark:, H Beck-Nielsen, Staehr, P, Højlund, K, Vestergaard, V, Olsen, C, L Hansen Perugia, Italy: GB Bolli, Porcellati, F, Fanelli, C, Lucidi, P, Calcinaro, F, A Saturni Pisa, Italy:, E Ferrannini, Natali, A, Muscelli, E, Pinnola, S, Kozakova, M, Casolaro, A, BD Astiarraga Rome, Italy:, G Mingrone, Guidone, C, Favuzzi, A, P Di Rocco Vienna, Austria:, C Anderwald, Bischof, M, Promintzer, M, Krebs, M, Mandl, M, Hofer, A, Luger, A, Waldhäusl, W, and Roden, M
Subjects: Post-load glucose, Adult, Male, Blood Glucose, 0301 basic medicine, Diagnostic criteria, Endocrinology, Diabetes and Metabolism, Physiology, 030209 endocrinology & metabolism, Prediabetic State, 03 medical and health sciences, Endocrinology, 0302 clinical medicine, Research Letter, Internal Medicine, medicine, Humans, Prediabetes, Plasma glucose, Glucose tolerance test, Post-challenge glucose, Prediabetes phenotype, Progression, medicine.diagnostic_test, business.industry, Fasting, Female, Glucose Tolerance Test, Middle Aged, Settore MED/13 - ENDOCRINOLOGIA, Human physiology, medicine.disease, Diabetes and Metabolism, 030104 developmental biology, Cohort, business
Abstract: The affiliation details for Geltrude Mingrone are corrected below.
Published: 2018
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10. MANAGEMENT OF ENDOCRINE DISEASE Hyperandrogenic states in women: pitfalls in laboratory diagnosis

Author: Michel Pugeat, Aude Brac de la Perriere, Gerald Raverot, Véronique Raverot, Ingrid Plotton, and Henri Déchaud
Subjects: medicine.medical_specialty, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Physiology, 030209 endocrinology & metabolism, Normal values, Androgen Excess, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Sex hormone-binding globulin, Tandem Mass Spectrometry, Sex Hormone-Binding Globulin, Internal medicine, Humans, Medicine, Testosterone, Congenital adrenal hyperplasia, 030219 obstetrics & reproductive medicine, Endocrine disease, biology, Free testosterone, Clinical Laboratory Techniques, business.industry, Testosterone (patch), General Medicine, medicine.disease, Androgen, Androgens, biology.protein, Female, Hyperandrogenism, business
Abstract: Measuring total testosterone level is the first-line approach in assessing androgen excess in women. The main pitfalls in measuring testosterone relate to its low concentration and to the structural similarity between circulating androgens and testosterone, requiring accurate techniques with high specificity and sensitivity. These goals can be achieved by immunoassay using a specific anti-testosterone monoclonal antibody, ideally after an extraction step. Liquid chromatography coupled to tandem mass spectrometry (LC–MS/MS) will be commonly used for measuring testosterone, providing optimal accuracy with a low limit of detection. Yet, the pitfalls of these two techniques are well identified and must be recognized and systematically addressed. In general, laboratories using direct testosterone immunoassay and mass spectrometry need to operate within a quality framework and be actively engaged in external quality control processes and standardization, so as to ensure appropriate interpretation irrespective of the particular laboratory. Circulating testosterone is strongly bound to sex-hormone-binding globulin (SHBG), and SHBG levels are typically low in overweight hyperandrogenic patients. Thus, low SHBG may decrease circulating testosterone to normal values, which will mask androgen excess status. One way to avoid this pitfall, awaiting direct free testosterone assays that are yet to be developed, is to measure SHBG and calculate free testosterone. A few other pitfalls will be discussed in this review, including those of adrenal androgen exploration, with the aim of helping clinicians to better handle laboratory investigation of androgen excess disorders in women.
Published: 2018
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11. Triple-A syndrome: a wide spectrum of adrenal dysfunction

Author: Florence Roucher-Boulez, Michel Pugeat, Christophe Vial, Aude Jacquez, Laurence Guignat, Gerald Raverot, Yves Morel, Marc Nicolino, Aude Brac de la Perriere, Delphine Chau, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), 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 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), and Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)
Subjects: Male, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Alacrima, Cohort Studies, Basal (phylogenetics), 0302 clinical medicine, Endocrinology, Renin, Child, Aldosterone, defects, Dehydroepiandrosterone Sulfate, Peripheral Nervous System Diseases, General Medicine, deficiency, Middle Aged, families, Prognosis, 3. Good health, achalasia, Phenotype, medicine.anatomical_structure, Disease Progression, Female, France, patient, Glucocorticoid, medicine.drug, wd-repeat protein, Adult, medicine.medical_specialty, Allgrove Syndrome, Adolescent, medicine.drug_class, Nerve Tissue Proteins, 030209 endocrinology & metabolism, Triple-A syndrome, allgrove syndrome, Young Adult, 03 medical and health sciences, Endocrinology & Metabolism, Adrenocorticotropic Hormone, Zona fasciculata, Internal medicine, medicine, Adrenal insufficiency, Humans, aaas gene, Glucocorticoids, Aged, Retrospective Studies, business.industry, medicine.disease, Zona Reticularis, Esophageal Achalasia, Nuclear Pore Complex Proteins, insufficiency, Mineralocorticoid, Zona Fasciculata, mutation, Cognition Disorders, business, 030217 neurology & neurosurgery, Adrenal Insufficiency
Abstract: Objective Triple-A or Allgrove syndrome is an autosomal recessive disorder due to mutations in the AAAS gene, which encodes a nucleoporin named ALADIN. It is characterized by a classical clinical triad: alacrima, achalasia and adrenal insufficiency, the canonic symptoms that are associated with progressive peripheral neuropathy. Only a few cohorts have been reported. The objective of the present study was to characterize the various spectra of adrenal function in Triple-A patients. Methods A retrospective clinical and biological monitoring of 14 patients (10 families) was done in a single multidisciplinary French center. All had AAAS gene sequenced and adrenal function evaluation. Results Nine different AAAS mutations were found, including one new mutation: c.755G>C, p.(Trp252Ser). Regarding adrenal function, defects of the zona fasciculata and reticularis were demonstrated by increased basal ACTH levels and low DHEAS levels in all cases regardless of the degree of glucocorticoid deficiency. In contrast, mineralocorticoid function was always conserved: i.e., normal plasma renin level associated with normal aldosterone level. The main prognostic feature was exacerbation of neuropathy and cognitive disorders. Conclusions These data suggest that, in Triple-A patients, adrenal function can be deficient, insufficient or compensated. In our cohort after the first decade of life, there does not appear to be any degradation of adrenal function over time. However, patients with compensated adrenal function should be informed and educated to manage a glucocorticoid replacement therapy in case of stressful conditions, with no need for systematic long-term treatment.
Published: 2018
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12. Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development

Author: Peggy T. Cohen-Kettenis, Robert Röhle, Nicole Reisch, Claire Bouvattier, Hedi Claahsen van der Grinten, Ute Thyen, Jolanta Słowikowska-Hilczer, Aude Brac de la Perriere, Anna Nordenström, Birgit Köhler, Medical psychology, Pediatric surgery, APH - Mental Health, and APH - Quality of Care
Subjects: Adult, Male, medicine.medical_specialty, Pediatrics, Adolescent, medicine.drug_class, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Disorders of Sex Development, 030209 endocrinology & metabolism, Medication Adherence, Cohort Studies, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Endocrinology, Patient satisfaction, Internal medicine, Turner syndrome, Medicine, Humans, Testosterone, business.industry, Information Dissemination, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], medicine.disease, Europe, Transgender hormone therapy, Patient Satisfaction, 030220 oncology & carcinogenesis, Cohort, Female, Hormone therapy, Klinefelter syndrome, business, Progestin
Abstract: Objectives: To describe and investigate the hormone treatments in individuals with different forms of disorders of sex development (DSD) and the patients' own views on their treatment. Design: Multicentre cross-sectional clinical evaluation, dsd-LIFE in 6 European countries from February 2014 to September 2015. Participants: A total of 1040 adolescents and adults (≥16 years) with different DSD conditions. Main outcomes measures: Hormone replacement, information received and patient satisfaction. Results: Included were women with Turner syndrome (301), 46,XX GD (n = 20), and women with 45,X/46XY (n = 24). Individuals with Klinefelter syndrome (n = 218), 46,XX males (n = 6), individuals with different forms of 46,XY DSD (n = 243): 46,XY DSD conditions (n = 222), men with 45,X/46XY (n = 21) 46,XX CAH, (n = 226). Oestrogen ± progestin was used by 306 (81%) individuals, 72 (19%) received ethinylestradiol and 198 had testosterone treatment. The overall adherence was good, with 10% of women with oestrogen and 5% of those on testosterone had stopped the medication despite 20% reporting dissatisfaction with the treatment, mostly because of psychological side effects. Glucocorticoid replacement in patients with CAH was very seldom stopped. More than 75% were satisfied with the information about the treatment, but the satisfaction with information about treatment options and side effects was lower. Conclusions: More than 50% in the total cohort had hormone replacement. Although adherence was generally good, this study shows that hormone replacement therapy may be improved. This may be achieved by better individualization of the treatment and by providing specific information to patients regarding both long-term and short-term hormonal effects and side effects.
Published: 2017
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13. Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study

Author: Jolanta Słowikowska-Hilczer, Angelica Lindén Hirschberg, Hedi Claahsen-van der Grinten, Nicole Reisch, Claire Bouvattier, Ute Thyen, Peggy Cohen Kettenis, Robert Roehle, Birgit Köhler, Anna Nordenström, Birgit Kohler, Peggy Cohen-Kettenis, Annelou de Vries, Wiebke Arlt, Claudia Wiesemann, Jolanta Slowikowska-Hilczer, Aude Brac de la Perriere, Charles Sultan, Francoise Paris, Annette Richter-Unruh, Anna Nordenstrom, Catherine Pienkowski, Maria Szarras-Czapnik, Medical psychology, Pediatric surgery, APH - Mental Health, APH - Quality of Care, Department of Andrology and Reproductive Endocrinology [Medical University of Łódź], Medical University of Łódź (MUL), Karolinska Institute, Stockholm University, Koordinierungszentrum für klinische Studien MUW, Humboldt-Universität zu Berlin, Department of Women's and Children's Health, Karolinska Institutet [Stockholm]-Karolinska University Hospital [Stockholm], VU medisch centrum, Department of Reproductive Endocrinology, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut de recherche en cancérologie de Montpellier (IRCM - U896 Inserm - UM1), Université Montpellier 1 (UM1)-CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service d'endocrinologie pédiatrique [CHU Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Radboud University Medical Center [Nijmegen]
Subjects: Male, Parents, Health Knowledge, Attitudes, Practice, medicine.medical_treatment, Disorders of Sex Development, DSD, Outcome (game theory), 0302 clinical medicine, Pregnancy, Surveys and Questionnaires, Disorders of sex development, Medical diagnosis, media_common, 030219 obstetrics & reproductive medicine, Obstetrics and Gynecology, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], Middle Aged, 3. Good health, Europe, Phenotype, Reproductive Health, Patient Satisfaction, Cohort, Female, Infertility, Female, Adult, medicine.medical_specialty, Adolescent, Reproductive Techniques, Assisted, media_common.quotation_subject, [SDV.CAN]Life Sciences [q-bio]/Cancer, 030209 endocrinology & metabolism, Fertility, MESH: Access to Information, Access to Information, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, Patient Education as Topic, Intervention (counseling), Adoption, medicine, Humans, Congenital adrenal hyperplasia, Genetic Predisposition to Disease, Infertility, Male, Aged, Gynecology, Assisted reproductive technology, business.industry, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, patient views, medicine.disease, patient information, Cross-Sectional Studies, Reproductive Medicine, Family medicine, business
Abstract: International audience; OBJECTIVE:To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received.DESIGN:A cross-sectional multicenter study, dsd-LIFE.SETTING:Not applicable.PATIENT(S):A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated.INTERVENTION(S):A web-based questionnaire was filled out by all participants. The participants could chose to take part in somatic investigations including ultrasonography.MAIN OUTCOME MEASURE(S):Information on partner, number of children, ART, adoption and step-children, general health, presence of gonads and uterus, current education and economic situation, received information on fertility issues, and satisfaction with the information, was collected.RESULT(S):In the total cohort, mean age 32 years, 33% lived with a partner, but only 14% reported having at least one child including 7% with ART, 4% adopted. Only 3.5% of the total cohort had been able to reproduce without ART, most frequently women with congenital adrenal hyperplasia, and only 0.7% of participants with other diagnoses. Of the participants, 72% had received information on fertility, but 17% were not satisfied with the information.CONCLUSION(S):Fertility outcome is significantly reduced in all types of DSD; however, fertility potential should be assessed individually. The satisfaction with how fertility problems have been discussed can be improved. The care of patients with DSD is complex, should be individualized, and new treatment possibilities incorporated. A close collaboration in multidisciplinary teams is therefore essential to improve the situation for individuals with DSD.
Published: 2017
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14. Insulin sensitivity and carotid intima-media thickness: relationship between insulin sensitivity and cardiovascular risk study

Author: Kozakova, M, Natali, A, Dekker, J, Beck Nielsen, H, Laakso, M, Nilsson, P, Balkau, B, Ferrannini, E, Heine, Rj, de Rooij, S, Nijpels, G, Boorsma, W, Mitrakou, A, Tournis, S, Kyriakopoulou, K, Thomakos, P, Lalic, N, Lalic, K, Jotic, A, Lukic, L, Civcic, M, Nolan, J, Yeow, Tp, Murphy, M, Delong, C, Neary, G, Colgan, Mp, Hatunic, M, Konrad, T, Böhles, H, Fuellert, S, Baer, F, Zuchhold, H, Golay, A, Harsch Bobbioni, E, Barthassat, V, Makoundou, V, Lehmann, Tn, Merminod, T, Petrie Dundee JR, Perry, C, Neary, F, Macdougall, C, Shields, K, Malcolm, L, Salmenniemi, U, Aura, A, Raisanen, R, Ruotsalainen, U, Sistonen, T, Laitinen, M, Saloranta, H, Coppack, Sw, Mcintosh, N, Ross, J, Pettersson, L, Khadobaksh, P, Laville, M, Bonnet, F, Brac de la Perriere, A, Louche Pelissier, C, Maitrepierre, C, Peyrat, J, Beltran, S, Serusclat, A, Gabriel, R, Sánchez, Em, Carraro, R, Friera, A, Novella, B, Persson, M, Östling, G, Melander, O, Burri, P, Piatti, Pm, Monti, Ld, Setola, E, Galluccio, E, Minicucci, F, Colleluori, A, Walker, M, Ibrahim, Im, Jayapaul, M, Carman, D, Ryan, C, Short, K, Mcgrady, Y, Richardson, D, Staehr, P, Hojlund, K, Vestergaard, V, Olsen, C, Hansen, L, Bolli, Geremia Brunetto, Porcellati, Francesca, Fanelli, Carmine Giuseppe, Lucidi, Paola, Calcinaro, Filippo, Saturni, A, Muscelli, E, Pinnola, S, Mingrone, G, Guidone, C, Favuzzi, A, Di Rocco, P, Anderwald, C, Bischof, M, Promintzer, M, Krebs, M, Mandl, M, Hofer, A, Luger, A, Waldhäusl, W, Roden, M, Balkau, Dekker, Ferrannini, Mari, A, Natali, Gaffney, P, Boran, G, Kok, A, Patel, S, Gastaldelli, A, Ciociaro, D, Guillanneuf, Mt, Mhamdi, L, Mota, L, Pacini, G, Cavaggion, C, Hills, Sa, Landucci, L, Mota, L., Epidemiology and Data Science, and EMGO - Lifestyle, overweight and diabetes
Subjects: Adult, Blood Glucose, Carotid Artery Diseases, Male, medicine.medical_specialty, Adipokine, Carotid Intima-Media Thickness, Risk Assessment, Sensitivity and Specificity, Cohort Studies, Insulin resistance, Age Distribution, Adipokines, Diabetes mellitus, Internal medicine, medicine.artery, medicine, Humans, Common carotid artery, cardiovascular diseases, Sex Distribution, Retrospective Studies, business.industry, Incidence, Fatty Acids, Insulin sensitivity, Cholesterol, LDL, Glucose Tolerance Test, Middle Aged, medicine.disease, Prognosis, Endocrinology, Intima-media thickness, Cardiovascular Diseases, Cohort, Glucose Clamp Technique, cardiovascular system, Female, Insulin Resistance, Cardiology and Cardiovascular Medicine, business, Dyslipidemia
Abstract: Objective— Despite a wealth of experimental data in animal models, the independent association of insulin resistance with early carotid atherosclerosis in man has not been demonstrated. Approach and Results— We studied a European cohort of 525 men and 655 women (mean age, 44±8 years) free of conditions known to affect carotid wall (diabetes mellitus, hypertension, and dyslipidemia). All subjects received an oral glucose tolerance test, a euglycemic hyperinsulinemic clamp (M/I as a measure of insulin sensitivity), and B-mode carotid ultrasound. In 833 participants (380 men), the carotid ultrasound was repeated after 3 years. In men, baseline intima-media thickness in the common carotid artery (CCA-IMT) was significantly higher ( P P Conclusions— In young-to-middle aged apparently healthy people, the association of CCA-IMT with insulin sensitivity and its metabolic correlates differs between men and women. Lower insulin sensitivity is associated with higher IMT only in men; this association seems to be mediated by circulating free fatty acids and adipocytokines. In women, CCA-IMT is independently associated with fasting plasma glucose.
Published: 2013
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15. Fasting insulin has a stronger association with an adverse cardiometabolic risk profile than insulin resistance: the RISC study

Author: de Rooij SR, Dekker, Jm, Kozakova, M, Mitrakou, A, Melander, O, Gabriel, R, Guidone, C, Højlund, K, Murphy, Ms, Nijpels, G, Dekker, J, de Rooij, S, Boorsma, P, Tournis, S, Kyriakopoulou, K, Thomakos, P, Lalic, N, Lalic, K, Jotic, A, Lukic, L, Civcic, M, Nolan, J, Yeow, Tp, Murphy, M, Delong, C, Neary, G, Colgan, Mp, Hatunic, M, Konrad, T, Böhles, H, Fuellert, S, Baer, F, Zuchhold, H, Golay, A, Harsch Bobbioni, E, Barthassat, V, Makoundou, V, Lehmann, Tn, Merminod, T, Petrie, Jr, Perry, C, Neary, F, Macdougall, C, Shields, K, Malcolm, L, Laakso, M, Salmenniemi, U, Aura, A, Raisanen, R, Raisanen, U, Sistonen, T, Laitinen, M, Saloranta, H, Coppack, Sw, Mcintosh, N, Ross, J, Pettersson, L, Khadobaksh, P, Laville, M, Bonnet, F, Brac de la Perriere, A, Louche Pelissier, C, Maitrepierre, C, Peyrat, J, Beltran, S, Serusclat, S, Sánchez, Me, Carraro, R, Friera, A, Perez, S, Nilsson, P, Persson, M, Ostling, G, Burri, P, Piatti, Pm, Monti, Ld, Setola, E, Galluccio, E, Minicucci, F, Colleluori, A, Walker, M, Ibrahim, Im, Jayapaul, M, Carman, D, Ryan, C, Short, K, Mcgrady, Y, Richardson, D, Beck Nielsen, H, Staehr, P, Hojlund, K, Vestergaard, V, Olsen, C, Hansen, L, Bolli, Gb, Porcellati, Francesca, Fanelli, Carmine Giuseppe, Lucidi, Paola, Calcinaro, F, Saturni, A, Ferrannini, E, Natali, A, Muscelli, E, Pinnola, S, Mingrone, G, Favuzzi, A, Di Rocco, P, Anderwald, C, Bischof, M, Promintzer, M, Krebs, M, Mandl, M, Hofe, A, Luger, A, Waldhäusl, W, Roden, M, Balkau, B, Mari, A, Gaffney, P, Boran, G, Kok, A, Patel, S, Gastaldelli, A, Ciociaro, D, Guillanneuf, Mt, Mhamdi, L, Landucci, L, Hills, S, Mota, L, Pacini, G, Cavaggion, C, Hills, Sa, Mota, Epidemiology and Data Science, General practice, and EMGO - Lifestyle, overweight and diabetes
Subjects: Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Cohort Studies, Endocrinology, Insulin resistance, Internal medicine, Prevalence, medicine, Hyperinsulinemia, Humans, Insulin, Ultrasonography, Metabolic Syndrome, Glucose tolerance test, medicine.diagnostic_test, business.industry, Metabolic Syndrome X, Fasting, General Medicine, Odds ratio, Glucose Tolerance Test, Middle Aged, Glucose clamp technique, medicine.disease, Cardiovascular Diseases, Europe, Female, Glucose Clamp Technique, Insulin Resistance, Tunica Media, Intima-media thickness, Metabolic syndrome, business
Abstract: ObjectiveFasting insulin concentrations are often used as a surrogate measure of insulin resistance. We investigated the relative contributions of fasting insulin and insulin resistance to cardiometabolic risk and preclinical atherosclerosis.Design and methodsThe Relationship between Insulin Sensitivity and Cardiovascular disease (RISC) cohort consists of 1326 European non-diabetic, overall healthy men and women aged 30–60 years. We performed standard oral glucose tolerance tests and hyperinsulinemic euglycemic clamps. As a general measure of cardiovascular risk, we assessed the prevalence of the metabolic syndrome in 1177 participants. Carotid artery intima media thickness (IMT) was measured by ultrasound to assess preclinical atherosclerosis.ResultsFasting insulin was correlated with all elements of the metabolic syndrome. Insulin sensitivity (M/I) was correlated with most elements. The odds ratio for the metabolic syndrome of those in the highest quartile of fasting insulin compared with those in the lower quartiles was 5.4 (95% confidence interval (CI) 2.8–10.3, adjusted for insulin sensitivity) in men and 5.1 (2.6–9.9) in women. The odds ratio for metabolic syndrome of those with insulin sensitivity in the lowest quartile of the cohort compared with those in the higher quartiles was 2.4 (95% CI 1.3–4.7, adjusted for fasting insulin) in men and 1.6 (0.8–3.1) in women. Carotid IMT was only statistically significantly associated with fasting insulin in both men and women.ConclusionsFasting insulin, a simple and practical measure, may be a stronger and independent contributor to cardiometabolic risk and atherosclerosis in a healthy population than hyperinsulinemic euglycemic clamp-derived insulin sensitivity.
Published: 2009
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16. Fatty liver is associated with insulin resistance, risk of coronary heart disease, and early atherosclerosis in a large European population

Author: Gastaldelli, A., Kozakova, M., Hojlund, K., Flyvbjerg, A., Favuzzi, A., Mitrakou, A., Balkau, B., Heine, R. J., Dekker, J., Nijpels, G., Boorsma, W., Tournis, S., Kyriakopoulou, K., Thomakos, P., Lalic, N., Lalic, K., Jotic, A., Lukic, L., Civcic, M., Nolan, J., Yeow, T. P., Murphy, M., Delong, C., Neary, G., Colgan, M. P., Hatunic, M., Konrad, T., Bohles, H., Fuellert, S., Baer, F., Zuchhold, H., Golay, A., Harsch Bobbioni, E., Barthassat, V., Makoundou, V., Lehmann, T. N. O., Merminod, T., Petrie, J. R., Perry, C., Neary, F., Macdougall, C., Shields, K., Malcolm, L., Laakso, M., Salmenniemi, U., Aura, A., Raisanen, R., Ruotsalainen, U., Sistonen, T., Laitinen, M., Saloranta, H., Coppack, S. W., Mcintosh, N., Khadobaksh, P., Laville, M., Bonnet, F., Brac de la Perriere, A., Louche-Pelissier, C., Maitrepierre, C., Peyrat, J., Serusclat, A., Gabriel, R., Sanchez, E. M., Carraro, R., Friera, A., Novella, B., Nilsson, P., Persson, M., Oostling, G., Melander, O., Burri, P., Piatti, P. M., Monti, L. D., Setola, E., Galluccio, E., Minicucci, F., Colleluori, A., Walker, M., Ibrahim, I. M., Jayapaul, M., Carman, D., Short, K., Mcgrady, Y., Richardson, D., Beck-Nielsen, H., Staehr, P., Vestergaard, V., Olsen, C., Hansen, L., Bolli, G. B., Porcellati, F., Fanelli, C., Lucidi, P., Calcinaro, F., Saturni, A., Ferrannini, E., Natali, A., Muscelli, E., Pinnola, S., Mingrone, G., Guidone, C., Di Rocco, P., Anderwald, C., Bischof, M., Promintzer, M., Krebs, M., Mandl, M., Hofer, A., Luger, A., Waldhaausl, W., Roden, M., Dekker, J. M., Mari, A., Gaffney, P., Boran, G., Kok, A., Patel, S., Ciociaro, D., Guillanneuf, M. T., Mhamdi, L., Pacini, G., Cavaggion, C., Hills, S. A., Landucci, L., Mota, L., Epidemiology and Data Science, Internal medicine, General practice, and EMGO - Lifestyle, overweight and diabetes
Subjects: Adult, Male, medicine.medical_specialty, Carotid Artery, Common, Coronary Disease, Impaired glucose tolerance, Framingham Heart Study, Insulin resistance, Risk Factors, Internal medicine, Diabetes mellitus, Humans, Medicine, Prospective Studies, Risk factor, Ultrasonography, Hepatology, Adiponectin, business.industry, Fatty liver, Middle Aged, Atherosclerosis, medicine.disease, Common, Europe, Fatty Liver, Endocrinology, Female, Insulin Resistance, Intima-media thickness, Carotid Artery, business
Abstract: Udgivelsesdato: 2009-May Patients with fatty liver (FL) disease have a high risk of developing diabetes and cardiovascular diseases. The aim was to evaluate the association between FL, insulin resistance (IR), coronary heart disease (CHD) risk, and early atherosclerosis in a large European population (RISC Study). In 1,307 nondiabetic subjects (age 30-60 years) recruited at 19 centers, we evaluated liver enzymes, lipids, insulin sensitivity (by euglycemic-hyperinsulinemic clamp), glucose tolerance (by 75 g oral glucose tolerance test), carotid atherosclerosis as intima media thickness (IMT), CHD risk by the Framingham Heart study prediction score, and physical activity (by accelerometer). The presence of FL was estimated using the fatty liver index (FLI; >60, likelihood >78% presence FL; FLI 91% absence of FL). Subjects were divided into three groups: G1: FLI 60 (n = 234), G2: intermediate group (n = 465). Compared to G1, G3 included more men (70% versus 24%) and people with impaired glucose tolerance (23% versus 5%). IMT increased with FLI (G3 = 0.64 +/- 0.08 versus G1 = 0.58 +/- 0.08 mm, P < 0.0001). FLI was associated with increased CHD risk (r = 0.48), low-density lipoprotein cholesterol (r = 0.33), alanine aminotransferase (r = 0.48), aspartate aminotransferase (r = 0.25), systolic blood pressure (r = 0.39) and IMT (r = 0.30), and reduced insulin sensitivity (r = -0.43), high-density lipoprotein cholesterol (r = -0.50), adiponectin (r = -0.42), and physical activity (r = -0.16, all P < 0.0001). The correlations hold also in multivariate analysis after adjusting for age, gender, and recruiting center. Conclusion: In middle-age nondiabetic subjects, increased IMT, CHD risk, and reduced insulin sensitivity are associated with high values of FLI.
Published: 2009
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17. Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures

Author: Daniela Gorduza, Véronique Tardy-Guidollet, Elsa Robert, Claire-Lise Gay, Pierre Chatelain, Michel David, Patricia Bretones, Anne Lienhardt-Roussie, Aude Brac de la Perriere, Yves Morel, and Pierre Mouriquand
Subjects: Pediatrics, medicine.medical_specialty, Urology, Gestational Age, Dexamethasone, Drug Administration Schedule, Pregnancy, Medicine, Humans, Sex organ, Congenital adrenal hyperplasia, Genital tubercle, Glucocorticoids, Retrospective Studies, Fetal Therapies, Adrenal Hyperplasia, Congenital, business.industry, Infant, Surgical procedures, medicine.disease, Virilism, Large cohort, Phenotype, Pediatrics, Perinatology and Child Health, Gestation, Female, business, medicine.drug
Abstract: Objective To describe the action of prenatal dexamethasone (PreDex) on the anatomy of female congenital adrenal hyperplasia (CAH) genitalia when started at later stages of gestation. Materials and methods Our group follows a large cohort of French CAH patients who underwent PreDex therapy, of whom 258 were recently reported. Four 46,XX patients with a delayed PreDex treatment presented with a virilized genitalia and required surgical reconstruction. This is a retrospective report on genital phenotyping at the time of surgery of these four patients who began PreDex therapy at 8, 12, 20, and 28 weeks of gestation. Results Although this series is limited in number, the anatomical description of the length of the genital tubercle, the height of the urethra–vaginal confluence, and the degree of fusion of the genital folds seems to be dependent upon the starting date of PreDex. Most PreDex treatments prescribed up to now have covered the full duration of gestation. Conclusions Our findings suggest that PreDex therapy could be limited to the period of the partitioning window. It is hoped that further prospective multicentric clinical studies will obtain ethical approval in order to elucidate the place and protocols of PreDex therapy in the management of CAH.
Published: 2013

18. From metabolic normality to cardiometabolic risk factors in subjects with obesity

Author: Elisabetta Bobbioni Harsch, Zoltan, Pataky, Vincent, Makoundou, Martine, Laville, Emmanuel, Disse, Christian, Anderwald, Thomas, Konrad, Alain, Golay, Heine, Rj, Dekker, J, Nijpels, G, Boorsma, W, Mitrakou, A, Tournis, S, Kyriakopoulou, K, Thomakos, P, Lalic, N, Lalic, K, Jotic, A, Lukic, L, Civcic, M, Nolan, J, Yeow, Tp, Murphy, M, Delong, C, Neary, G, Colgan, Mp, Hatunic, M, Konrad, T, Böhles, H, Fuellert, S, Baer, F, Zuchhold, H, Golay, A, Harsch Bobbioni, E, Pataky, Z, Petrie, Jr, Perry, C, Neary, F, Macdougall, C, Shields, K, Malcolm, L, Laakso, M, Salmenniemi, U, Aura, A, Raisanen, R, Ruotsalainen, U, Sistonen, T, Laitinen, M, Saloranta, H, Coppack, Sw, Mcintosh, N, Khadobaksh, P, Laville, M, Bonnet, F, Brac de la Perriere, A, Louche Pelissier, C, Maitrepierre, C, Peyrat, J, Serusclat, A, Gabriel, R, Sánchez, Em, Carraro, R, Friera, A, Novella, B, Nilsson, P, Persson, M, Östling, G, Melander, O, Burri, P, Piatti, Pm, Monti, Ld, Setola, E, Galluccio, E, Minicucci, F, Colleluori, A, Walker, M, Ibrahim, Im, Jayapaul, M, Carman, D, Short, K, Mcgrady, Y, Richardson, D, Beck Nielsen, H, Staehr, P, Hojlund, K, Vestergaard, V, Olsen, C, Hansen, L, Bolli, Geremia Brunetto, Porcellati, Francesca, Fanelli, Carmine Giuseppe, Lucidi, Paola, Calcinaro, F, Saturni, A, Ferrannini, E, Natali, A, Muscelli, E, Pinnola, S, Kozakova, M, Mingrone, G, Guidone, C, Favuzzi, A, Di Rocco, P, Anderwald, C, Bischof, M, Promintzer, M, Krebs, M, Mandl, M, Hofer, A, Luger, A, Waldhäusl, W, Roden, M, Balkau, B, Dekker, Jm, Mari, A, Gaffney, P, Boran, G, Kok, A, Patel, S, Gastaldelli, A, Ciociaro, D, Guillanneuf, Mt, Mhamdi, L, Pacini, G, Cavaggion, C, Hills, Sa, Landucci, L, and Mota, L.
Subjects: Adult, Male, medicine.medical_specialty, Obesity, cardiometabolic risk factors, Carotid Artery, Common, Endocrinology, Diabetes and Metabolism, Medicine (miscellaneous), Blood Pressure, Overweight, Carotid Intima-Media Thickness, Body Mass Index, Impaired glucose tolerance, Young Adult, Endocrinology, Insulin resistance, Reference Values, Risk Factors, Internal medicine, Glucose Intolerance, medicine, Humans, Obesity, ddc:613, Nutrition and Dietetics, business.industry, Body Weight, Fasting, Middle Aged, medicine.disease, Impaired fasting glucose, Blood pressure, Cardiovascular Diseases, lipids (amino acids, peptides, and proteins), Female, medicine.symptom, Insulin Resistance, business, Lipoproteins, HDL, Body mass index, Weight gain
Abstract: The aim of the study was to evaluate the 3 years incidence of cardiometabolic risk factors, such as impaired fasting glucose, reduced high-density lipoprotein (HDL)-cholesterol, increased plasma triglycerides or blood pressure as well as impaired glucose tolerance in overweight or obese (ow/ob) and normal body weight (nbw) subjects metabolically normal at baseline. Subjects from the Relationship between Insulin Sensitivity and Cardiovascular Disease (RISC) study were analyzed. We analyzed 284 nbw and 152 ow/ob subjects who, at baseline, did not show any of the above-mentioned cardiometabolic risk factors. At 3 years, these parameters were re-evaluated. Intima-media thickness (IMT) of the common carotid artery (CCA) was echographically measured. At follow-up, the incidence of one or more cardiometabolic risk factors was 57.2% in ow/ob vs. 31.7% in nbw (P < 0.0001). After adjustment for age, sex, menopause status, lifestyle parameters, insulin sensitivity, and fasting insulinemia, BMI remained significantly linked to the development of one or more cardiometabolic risk factors (P = 0.02). An increased BMI at follow-up was significantly associated with the development of cardiometabolic alterations, in both nbw and ow/ob groups (P = 0.04). Ow/ob subjects who, at 3 years follow-up, remained metabolically normal, showed a less favourable cardiometabolic profile, when compared to nbw counterparts. In ow/ob metabolically normal males and females, intima-media of the common carotid at follow-up was thicker than in nbw (P = 0.03 for males, P = 0.04 for females). In conclusion, metabolically normal obese subjects show a higher incidence of cardiometabolic risk factors, in a short follow-up period. Weight gain is significantly associated with the development of these factors, in both nbw and ow/ob subjects.
Published: 2012

19. The effect of menopause on carotid artery remodeling, insulin sensitivity, and plasma adiponectin in healthy women

Author: Muscelli, E., Kozakova, M., Flyvbjerg, A., Kyriakopoulou, K., Astiarraga, B. D., Glintborg, D., Konrad, T., Favuzzi, A., Petrie, J., Heine, R. J., Dekker, J., De Rooij, S., Nijpels, G., Boorsma, W., Mitrakou, A., Tournis, S., Thomakos, P., Lalic, N., Lalic, K., Jotic, A., Lukic, L., Civcic, M., Nolan, J., Yeow, T. P., Murphy, M., Delong, C., Neary, G., Colgan, M. P., Hatunic, M., Bohles, H., Fuellert, S., Baer, F., Zuchhold, H., Golay, A., Harsch Bobbioni, E., Barthassat, V., Makoundou, V., Lehmann, T. N. O., Merminod, T., Petrie, J. R., Perry, C., Neary, F., Macdougall, C., Shields, K., Malcolm, L., Laakso, M., Salmenniemi, U., Aura, A., Raisanen, R., Ruotsalainen, U., Sistonen, T., Laitinen, M., Saloranta, H., Coppack, S. W., Mcintosh, N., Ross, J., Pettersson, L., Khadobaksh, P., Laville, M., Bonnet, F., Brac De La Perriere, A., Louche-Pelissier, C., Maitrepierre, C., Peyrat, J., Beltran, S., Serusclat, A., Gabriel, R., Sanchez, E. M., Carraro, R., Friera, A., Novella, B., Nilsson, P., Persson, M., Ostling, G., Melander, O., Burri, P., Piatti, P. M., Monti, L. D., Setola, E., Galluccio, E., Minicucci, F., Colleluori, A., Walker, M., Ibrahim, I. M., Jayapaul, M., Carman, D., Ryan, C., Short, K., Mcgrady, Y., Richardson, D., Beck-Nielsen, H., Staehr, P., Hojlund, K., Vestergaard, V., Olsen, C., Hansen, L., Bolli, G. B., Porcellati, F., Fanelli, C., Lucidi, P., Calcinaro, F., Saturni, A., Ferrannini, E., Natali, A., Pinnola, S., Mingrone, G., Guidone, C., Di Rocco, P., Anderwald, C., Bischof, M., Promintzer, M., Krebs, M., Mandl, M., Hofer, A., Luger, A., Waldhausl, W., Roden, M., Balkau, B., Dekker, J. M., Mari, A., Gaffney, P., Boran, G., Kok, A., Patel, S., Gastaldelli, A., Ciociaro, D., Guillanneuf, M. T., Mhamdi, L., Pacini, G., Cavaggion, C., Hills, S. A., Landucci, L., and Mota, L.
Subjects: Blood Glucose, medicine.medical_specialty, Carotid Artery, Common, medicine.medical_treatment, Blood Pressure, Insulin resistance, Risk Factors, medicine.artery, Internal medicine, Insulin Secretion, Internal Medicine, Medicine, Humans, Insulin, Common carotid artery, cardiovascular diseases, Ultrasonography, Adiponectin, Cardiovascular Diseases, Cross-Sectional Studies, Female, Insulin Resistance, Menopause, Middle Aged, Tunica Intima, Tunica Media, business.industry, medicine.disease, Common, Endocrinology, Blood pressure, Intima-media thickness, cardiovascular system, Carotid Artery, business, Body mass index
Abstract: BACKGROUND The mechanisms by which menopause may influence the systemic subclinical atherosclerosis are unexplained. The aim of this cross-sectional study was to evaluate the associations between early menopause, established cardiovascular (c-v) risk factors, metabolic parameters (insulin secretion and sensitivity, plasma adiponectin), and carotid intima-media thickness (IMT) in healthy women. METHODS In 74 menopausal women (mean age = 51 +/- 3 years, mean duration of menopause = 2.9 +/- 1.2 years) and in 74 nonmenopausal women comparable for age and body mass index (BMI), common carotid artery (CCA) luminal diameter, and IMT in different carotid segments were measured in digitized ultrasound images. Insulin sensitivity and secretion were assessed using the euglycemic hyperinsulinemic clamp technique and oral glucose tolerance test (OGTT). Insulin secretion was reconstructed by mathematical modeling. RESULTS CCA diameter (5.55 +/- 0.46 vs. 5.21 +/- 0.51 mm, P less than 0.001), CCA IMT (608 +/- 78 vs. 576 +/- 74 mu m, P less than 0.01) and systolic blood pressure (BP) 0 17 +/- 12 vs. 113 +/- 11 mm Hg, P less than 0.05) were higher in menopausal women, whereas CCA IMT/diameter ratio and IMT in other carotid segments did not differ between the groups. By multivariate models, independent predictors of CCA diameter were menopause and body weight (cumulative R-2 = 0.37) and independent correlates of CCA IMT were luminal diameter, systolic BP and low-density lipoprotein (LDL) cholesterol (cumulative R-2 = 0.48). Fasting insulin, insulin secretion, and sensitivity and plasma adiponectin were similar in the two groups and were not related to carotid IMT. CONCLUSIONS Early menopause is associated with CCA remodeling, characterized by a proportional increase in luminal diameter and wall thickness, independent of atherosclerotic risk factors and metabolic variables.
Published: 2009
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20. Daily intake of conjugated linoleic acid-enriched yoghurts : effects on energy metabolism and adipose tissue gene expression in healthy subjects

Author: Corinne Louche-Pelissier, Hubert Vidal, Aude Brac de la Perriere, Martine Laville, Joëlle Bruzeau, Jocelyne Peyrat, Julie-Anne Nazare, Christine Maitrepierre, Michel Desage, Joëlle Goudable, Taous Lassel, Fabrice Bonnet, and DANONE, Admin
Subjects: Adult, Blood Glucose, Leptin, Male, medicine.medical_specialty, Linoleic acid, Conjugated linoleic acid, Gene Expression, Medicine (miscellaneous), Peroxisome proliferator-activated receptor, Adipose tissue, Ion Channels, Mitochondrial Proteins, chemistry.chemical_compound, Double-Blind Method, Internal medicine, Gene expression, medicine, Humans, Insulin, Linoleic Acids, Conjugated, Uncoupling Protein 2, Lipase, chemistry.chemical_classification, Lipoprotein lipase, Nutrition and Dietetics, biology, Uncoupling Agents, Fatty Acids, food and beverages, Sterol Esterase, Yogurt, Lipids, PPAR gamma, Lipoprotein Lipase, Endocrinology, Adipose Tissue, chemistry, Dietary Supplements, Basal metabolic rate, Body Composition, biology.protein, Female, lipids (amino acids, peptides, and proteins), Energy Metabolism, [SDV.IDA.ING.LIP] Life Sciences [q-bio]/Food engineering/domain_sdv.ida.ing/domain_sdv.ida.ing.lip
Abstract: Conjugated linoleic acid (CLA) is a group of positional and geometric isomers of conjugated dienoic derivatives of linoleic acid. The present study was designed to determine whether 14-week CLA supplementation as triacylglycerols (3·76 g) with a 50 : 50 combination of the two main isomers (35 %cis-9,trans-11 and 35 %trans-10,cis-12) added to flavoured yoghurt-like products was able to alter body composition in healthy subjects and to alter the expression of several key adipose tissue genes (PPAR γ, lipoprotein lipase (LPL), hormone-sensitive lipase (HSL) and uncoupling protein 2 (UCP-2)). Forty-four healthy subjects were randomly assigned to consume daily either a CLA-supplemented yoghurt-like product or a placebo yoghurt for 98 d. There were no significant effects of CLA supplementation on body weight, fat mass or free fat mass. Basal energy expenditure expressed as kg free fat mass increased significantly in the CLA group (123·3 (sem2·5) kJ/kg free fat mass per d on day 98v.118·7 (sem2·3) kJ/kg free fat mass per d on day 0,P = 0·03). PPAR γ mRNA gene expression increased significantly with CLA supplementation (53 (sem20) %,P sem7) %,P = 0·01). The levels of UCP-2 and LPL mRNA were not affected. The present results suggest that a 98 d supplementation diet with a 50 : 50 mixture of the two CLA isomerscis-9,trans-11 andtrans-10,cis-12 in a dairy product was unable to alter body composition, although a significant increase in the RMR has been induced. Moreover, changes in mRNA PPAR γ and HSL in adipose tissue were recorded.
Published: 2007

21. Evaluation of the hygienic quality of raw milk based on the presence of bifidobacteria : the cow as a source of faecal contamination

Author: H Beerens, B Hass Brac de la Perriere, Françoise Gavini, Unité de recherche d'Écologie et Physiologie du Système Digestif (UEPSD), Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration
Subjects: digestive system, Microbiology, Feces, fluids and secretions, Animals, Food science, [SDV.MP] Life Sciences [q-bio]/Microbiology and Parasitology, Bifidobacterium, biology, food and beverages, Actinomycetaceae, General Medicine, Contamination, Raw milk, biology.organism_classification, Milk, Phenotype, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Food Microbiology, bacteria, Cattle, Female, Actinomycetales, Cow dung, Bacteria, Food Science
Abstract: Fifty-eight samples of raw milk from three different farms were examined for the presence of bifidobacteria. Isolates were identified and compared with bifidobacteria isolated from dung of the cows that provided the milk. Of the raw milk samples, 88% harboured Bifidobacterium pseudolongum subsp. globosum, as did 95% of the dung samples.
Published: 2000

22. Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome

Author: Thomas Hacquart, Frédérique Nugues, Aude Brac de la Perriere, François Cotton, Salem Hannoun, V. Lapras, Aïcha Ltaief-Boudrigua, Gérald Raverot, Catherine Dodé, Cécile Jeannerod, Michel Pugeat, Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), 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)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Département de Neuroradiologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), RMN et optique : De la mesure au biomarqueur, Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-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 Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-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-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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 de la Recherche Agronomique (INRA), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), and Ratiney, Helene
Subjects: Adult, Male, Olfactory system, Adolescent, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Olfaction, Olfaction Disorders, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Ptosis, Hypogonadotropic hypogonadism, medicine, Humans, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, business.industry, Hypogonadism, Kallmann Syndrome, Olfactory Pathways, General Medicine, Anatomy, Middle Aged, Sulcus, medicine.disease, Magnetic Resonance Imaging, Olfactory Bulb, Olfactory bulb, [SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, Olfactory Cortex, medicine.anatomical_structure, Agenesis, Female, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Objective The aim of this retrospective study was to perform magnetic resonance imaging assessment of olfactory pathway and skull base abnormalities in Kallmann syndrome (KS) patients with hypogonadotropic hypogonadism and olfaction disorder. Methods Magnetic resonance brain patterns were retrospectively studied in 19 patients clinically classified as KS. Qualitative assessment of olfactory bulb region comprised bulb atrophy and rectus and medial orbital gyrus ptosis; quantitative assessment measured olfactory fossa depth and width, sulcus depth and ethmoid angle. Results were compared to an age- and sex-matched control population ( n = 19) with no impairment in the region of interest. Sixteen of the 19 KS patients were genetically screened for mutations associated with KS. Results On the above qualitative criteria, 15 of the 19 patients presented either unilateral ( n = 2) or bilateral ( n = 13) olfactory bulb agenesis; 16 showed tract agenesis and 16 showed gyrus malformation (ptosis or absence). On the quantitative criteria, 18 of the 19 patients showed abnormal sulcus depth and/or olfactory fossa malformation and/or abnormal ethmoid angle. Conclusion The presence of malformation abnormalities in the olfactory fossae of 18 of the 19 patients appears to be a key factor for etiological diagnosis of hypogonadotropic hypogonadism, and should enable targeted study of genes involved in KS.

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22 results on '"A Brac de la Perriere"'

1. Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype

2. Adherence to growth hormone therapy guidelines in a real-world French cohort of adult patients with growth hormone deficiency

3. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

4. Female sex and angiotensin-converting enzyme (ace) insertion/deletion polymorphism amplify the effects of adiposity on blood pressure

5. Exposure to Glucocorticoids in the First Part of Fetal Life is Associated with Insulin Secretory Defect in Adult Humans

6. X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

7. Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia

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

9. One hour post-load plasma glucose and 3 year risk of worsening fasting and 2 hour glucose tolerance in the RISC cohort

10. MANAGEMENT OF ENDOCRINE DISEASE Hyperandrogenic states in women: pitfalls in laboratory diagnosis

11. Triple-A syndrome: a wide spectrum of adrenal dysfunction

12. Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development

13. Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study

14. Insulin sensitivity and carotid intima-media thickness: relationship between insulin sensitivity and cardiovascular risk study

15. Fasting insulin has a stronger association with an adverse cardiometabolic risk profile than insulin resistance: the RISC study

16. Fatty liver is associated with insulin resistance, risk of coronary heart disease, and early atherosclerosis in a large European population

17. Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures

18. From metabolic normality to cardiometabolic risk factors in subjects with obesity

19. The effect of menopause on carotid artery remodeling, insulin sensitivity, and plasma adiponectin in healthy women

20. Daily intake of conjugated linoleic acid-enriched yoghurts : effects on energy metabolism and adipose tissue gene expression in healthy subjects

21. Evaluation of the hygienic quality of raw milk based on the presence of bifidobacteria : the cow as a source of faecal contamination

22. Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome

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22 results on '"A Brac de la Perriere"'

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