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1. [Worldwide contraception]

Author

Sophie, Christin-Maitre

Subjects
Adult, Male, Young Adult, Contraception, Adolescent, Contraceptive Agents, Pregnancy, Family Planning Services, Sterilization, Reproductive, Humans, Female, Middle Aged
Abstract

The latest statistics concerning contraceptive use in the world have been published in 2019 by the United Nations. Among the 1.9 billion of women of reproductive age (15-49 years), 1.1 billion have a need for family planning. Among them, 190 millions are not using any contraception, although they wanted to avoid a pregnancy. There is a significant discrepancy among continents concerning the percentage of contraceptive use and the distribution of the different types of contraception. Female sterilization is the most widespread method of contraception since it represents 24% of all contraception methods used. Male condoms is used by 21% of couples. Thus, progress is still needed to disseminate effective, well tolerated and potentially reversible methods of contraception. Education of females, couples, medical and paramedical staff is one of the priority targets to improve contraception throughout the world.La contraception à travers le monde.Les dernières données concernant la contraception à travers le monde ont été publiées en 2019 par l’Organisation des Nations unies (ONU). Parmi les 1,9 milliard de femmes en âge de procréer (entre 15 et 49 ans), 1,1 milliard souhaitaient une contraception. Pourtant, 10 % d’entre elles n’utilisaient pas de méthode contraceptive, essentiellement en raison d’un manque d’accès à ces méthodes. Selon les continents, une grande disparité est observée dans l’utilisation des différentes méthodes contraceptives. La stérilisation féminine, ou contraception définitive, reste cependant la méthode majoritairement utilisée puisqu’elle représente 24 % des contraceptions. Des progrès sont nécessaires, en particulier dans l’éducation, pour améliorer la diffusion d’autres méthodes également efficaces, qui sont bien tolérées et possiblement réversibles.

Published
2022

2. Liste des auteurs

Author

Elodie, Adda-Herzog, Louise, Adjiman, Naouel, Ahdad-Yata, Sylvia, Alvarez, Jean-Marie, Antoine, Christophe, Arnoult, Paul, Atlan, Jean-Marc, Ayoubi, Paul, Barrière, Alexandre, Bellucci, Achraf, Benammar, Marion, Bendayan, Moncef, Benkhalifa, Valérie, Bernard, Florence, Boitrelle, Corrine, Bordonné, Philippe, Bouchard, Yasmine, Boumerdassi, Charlotte, Bourdin, Mathilde, Bourdon, Rosalie, Cabry, Perrine, Capmas, Marie, Carbonnel, Isabelle, Cedrin-Durnerin, Charles, Chapron, Ahmed, Chargui, Sophie, Christin-Maitre, Jocelyne, De Laveaucoupet, Dominique, de Ziegler, Elodie, Debras, Christine, Decanter, Jacques, Demouzon, Didier, Dewailly, Gauthier, Dietrich, Ludovic, Dumont, Sylvie, Epelboin, Florence, Eustache, Marc, Even, Renato, Fanchin, Patricia, Fauque, Stéphanie, Fay, Aurélie, Feraille, Hervé, Fernandez, Xavier, Ferraretto, Lucile, Ferreux, Meriem, Filali, Julie, Firmin, Muriel, Flis-Trèves, Camille, Fossard, Thomas, Freour, René, Frydman, Michael, Grynberg, Camille, Grysole, Véronique, Guegan, Samir, Hamamah, Estelle, Heggarty, Hesters, Laetitia, Vincent, Izard, Laetitia, Jacquesson, Margaux, Jegaden, Léa, Karpel, Julie, Labrosse, Tatiana, Lecot-Connan, Elodie, Lefranc, Hélène, Letur, Jean-Marc, Levaillant, Marie-Astrid, Llabador, Noureddine, Louanjli, Sophie, Loubersac, Chloé, Maignien, Moudou, Mamoune Mbaye, Louis, Marcellin, Nathalie, Massin, d'Argent Emmanuelle, Mathieu, Marie-Laure, Maurin, Anne, Mayeur, Charlotte, Methorst, Anne Élodie, Millischer, Pierre, Miron, Debbie, Montjean, Arnold, Munnich, Jana, Muroňová, François, Olivennes, Anne, Oppenheimer, Catherine, Patrat, Sarah, Peyrelevade, Olivier, Pirrello, Paul, Pirtea, Khaled, Pocate-Cheriet, Xavier, Pollet-Villard, Marine, Poulain, Anne-Gaëlle, Pourcelot, Julien, Puntonet, Pierre, Ray, Arnaud, Reignier, Virginie, Rio, Nathalie, Rives, Catherine, Rongières, Pietro, Santulli, Inès, Sellami, Lise, Selleret, Christophe, Sifer, Charlotte, Sonigo, Julie, Steffann, Myriam, Szejer, Charles, Tibi, Jessica, Vandame, Yves, Ville, Jonathan, Zerbib, Achour-Frydman, Nelly, Alter, Laura, Hoffet, Aurélie Amar, Avril, Catherine, Belaisch-Allart, Joëlle, Belhadrie-Mansouri, Naima, Bergere, Marianne, Boistot, Lucile, Boyer, Pierre, Brugnon, Florence, Catteau, Aurore, Chauffour, Candice, Celton, Noémie, Copin, Henri, Dejou-Bouillet, Lydie, Deutsch-Bringer, Sophie, Devaux, Aviva, Dolto, Catherine, Dumont, Martine, Duros, Solène, Ferraretto, Xavier, Ferretti, Caterina, Gayet, Vanessa, Gervoise-Boyer, Marie, Giguère, Claudie, Gremeau, Anne-Sophie, Gronier, Héloïse, Guérin, Jean-François, Haouzi, Delphine, Hédon, Bernard, Hugues, Jean-Noël, Janny, Laurent, Kadoch, Isaac-Jacques, Le Bras-Mayeur, Anne, Lédée, Nathalie, Lemoine, Mathilde, Lévy, Rachel, de Royer, Marie-Astrid Llabador, Lornage, Jacqueline, Lubin, Vanessa, Marzouk, Paul, Merviel, Philippe, Mestres, Stéphanie, Molina-Gomes, Denise, Montagut, Jacques, Nataf, Eric, Oger, Pierre, Pouly, Jean-Luc, Rayssiguier, Romy, Rossin, Betty, Salle, Bruno, Scalici, Elodie, Selva, Jacqueline, Siraudin, Cendrine, Splingart, Carole, Torre, Antoine, Valière, Martine, Vialard, François, Vinolas, Claire, and Yazbeck, Chadi

Published
2023
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3. Monogenic forms of lipodystrophic syndromes - diagnosis, detection, and practical management considerations from clinical cases

Author

Corinne Vigouroux, Marie-Christine Vantyghem, Camille Vatier, Jean-Claude Carel, Sophie Christin-Maitre, Bruno Fève, Isabelle Jéru, Jacques Beltrand, Olivier Lascols, Caroline Storey, Elise Bismuth, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-CHU Saint-Antoine [AP-HP], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Sorbonne Paris Cité (USPC), Laboratoire commun de biologie et génétique moléculaires [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'endocrinologie, gynécologie et diabétologie pédiatriques [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'endocrinologie, diabétologie et nutrition, Centre de Recherche en Nutrition Humaine - Ile de France (CRNH - IDF)-Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13), Gestionnaire, Hal Sorbonne Université, Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Sorbonne Paris Cité (USPC)-Hôpital Jean Verdier [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre de Recherche en Nutrition Humaine - Ile de France (CRNH - IDF)

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Lipodystrophy, Familial partial lipodystrophy, Berardinelli-Seip congenital lipodystrophy, Early detection, Consanguinity, 030204 cardiovascular system & hematology, Metreleptin, Congenital generalized lipodystrophy, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, GTP-Binding Protein gamma Subunits, medicine, Humans, 030212 general & internal medicine, Aged, Metabolic Syndrome, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, business.industry, Infant, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, 3. Good health, Fatty Liver, chemistry, Mutation, Berardinelli-Seip Congenital Lipodystrophy, Female, business, Acyltransferases
Abstract

International audience; BACKGROUND: Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. insulin resistance, dyslipidemia, fatty liver, and diabetes, and to provide appropriate genetic counseling. By means of several representative case studies, this article illustrates the diagnostic and management challenges of lipodystrophic syndromes.REVIEW: Berardinelli-Seip congenital lipodystrophy (BSCL) is typically diagnosed at birth, or soon thereafter, with generalized lipoatrophy and hepatomegaly secondary to hepatic steatosis. Physicians must also consider this diagnosis in adults with atypical non-autoimmune diabetes, hypertriglyceridemia, and a lean and muscular phenotype. The BSCL1 subtype due to mutations in the AGPAT2 gene can have an unusual presentation, especially in neonates and infants. Particular attention should be paid to infants presenting failure to thrive who also have hepatomegaly and metabolic derangements. The BSCL2 sub-type due to mutations in the BSCL gene tends to be more severe than BSCL1, and is characterized by greater fat loss, mild intellectual disability, earlier onset of diabetes, and higher incidence of premature death. Effective management from an earlier age may moderate the natural disease course. Partial lipodystrophies may easily be confused with common central obesity and/or metabolic syndrome. In patients with unexplained pancreatitis and hypertriglyceridemia, lipodystrophies such as familial partial lipodystrophy type 2 (FPLD2; Dunnigan type, due to LMNA mutations) should be considered. Oral combined contraceptives, which can reveal the disease by inducing severe hypertriglyceridemia, are contraindicated. Endogenous estrogens may also lead to "unmasking" of the FPLD2 phenotype, which often appears at puberty, and is more severe in females than males.CONCLUSIONS: Diet and exercise, adapted to age and potential comorbidities, are essential prerequisites for therapeutic management of lipodystrophic syndromes. Metreleptin therapy can be useful to manage lipodystrophy-related metabolic complications

Published
2019
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4. [Semen quality and fertility: the role of the environment and health]

Author

Sophie, Lamothe, Véronique, Kerlan, and Sophie, Christin-Maitre

Subjects
Male, Semen Analysis, Health Status, Hypogonadism, Humans, DNA, Obesity, Environment, Spermatogenesis, Spermatozoa, Infertility, Male, Epigenesis, Genetic
Abstract

Sperm quality appears to be degrading over the past 40 years. Nowadays, more than 35 % of causes of male infertility are still idiopathic. More and more studies have suggested an impact of environment on sperm quality, essentially through epigenetic and hormonal changes. Recent studies in men with impaired sperm quality, have demonstrated epigenetic variations in sperm DNA. These modifications are responsible for modifications of the expression of transmissible genes to theiroffspring. Those transgenerational effects have been particularly illustrated in drosophila and caenorhabditis elegans. In humans, consequences of the environment on fertility have been studied in obese men, who present hypogonadotropic as well as hypergonadotropic hypogonadisms. Interestingly, recent studies have suggested a correlation between sperm quality and longevity. In summary, those environmental factors are the source of new causes of infertility.

Published
2018

5. Liste des auteurs

Author

Geneviève, Plu-Bureau, Brigitte, Raccah-Tebeka, Anne, Bachelot, Julie, Benard, Anais, Bonnefoy, Claire, Bricaire, Nathalie, Chabbert-Buffet, Zeina, Chakhtoura, Sophie, Christin-Maitre, Jacqueline, Conard, Florence, Coussy, Sabrina, Da Costa, Clémence, Delcour, Nathalie, Dessaux, Mirabelle, Detoeuf, Marc, Espié, Anne, Fevre, Robin, Geoffroy, Alice, Gilly, Anne, Gompel, Naima, Hamdaoui, Anne-Sophie, Hamy-Petit, Diane, Hill, Marie-Hélène, Horellou, Hanna, Khider, Kamila, Kolanska, Sandrine, Kretz, Marie, Lambert, Mathilde, Latour, Tiphaine, Lefebvre, Emmanuelle, Lhomme, Patrice, Lopes, Carole, Maître, Lorraine, Maitrot-Mantelet, Anne-Charlotte, Menjot-Eneau, Marie, Meunier-Eck, Charlotte, Nélis, Sandrine, Pérol, Caroline, Pichard de Malleray, Guillaume, Pierre, Alix, Roquette, Christine, Rousset-Jablonski, Emmanuelle, Sabbagh, Régine, Sitruk-Ware, Tatiana, Stempak-Droissart, Sarah, Tebeka, Philippe, Touraine, and Florence, Trémollières

Published
2024
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6. [Premature ovarian failures]

Author

Léopoldine, Bricaire, Emmanuelle, Laroche, Nathalie, Bourcigaux, Bruno, Donadille, and Sophie, Christin-Maitre

Subjects
Chromosomes, Human, X, Fragile X Syndrome, Humans, Turner Syndrome, Female, Primary Ovarian Insufficiency, Sex Chromosome Aberrations, Autoimmune Diseases
Abstract

Premature ovarian failure (POF) is clinically suspected by amenorrhea and confirmed by an elevated FSH serum level above 40 mUI/L (even 20 mUI/L) twice, in a woman before the age of 40. Prevalence of POF is between 1 to 2% in women. In 90% of cases, no aetiology is identified. Obvious causes are chemotherapy, pelvic radiotherapy, ovarian surgery and diethylstilbestrol exposure in utero. A karyotype should be performed as Turner Syndrome is the most frequent genetic cause of POF. Some X abnormalities such as X deletion or X autosome translocation can be found. FMR1 pre-mutation (fragile X syndrome) should be searched for, even though no cases of mental retardation are known, in the family. Other genetic abnormalities can be suggested by associated symptoms (i.e.: FOXL2, SF1 mutations). Auto-immune aetiology can be suspected if other auto-immune features are present, however, there are no reliable auto-antibodies to confirm auto-immunity in POF. Treatment of POF is based on hormonal replacement therapy in order to avoid estrogen deficiency, suppress vasomotor symptoms and avoid bone loss as well as cardiovascular risk. Estrogens should be associated with progesterone or a progestin, at least up to the age of 51. Patients with POF should be informed that spontaneous pregnancies may occur (in 5% of cases). In case of desire of pregnancy, the patient should be oriented to a specialized unit for in vitro fertilization with oocyte donation. Psychological support is essential and should be part of the treatment. POF is associated with an increased risk of emotional distress and depression. No preventive treatment of POF is available so far.

Published
2012

8. [Physiology of ovulation and mode of action of contraceptive pills]

Author

Sophie, Christin-Maitre

Subjects
Corpus Luteum Hormones, Ovulation, Dose-Response Relationship, Drug, Contraceptive Agents, Female, Humans, Female, Luteinizing Hormone, Progestins, Ethinyl Estradiol, Progesterone
Abstract

Follicular ovulation occurs at most 400 times in a woman's lifetime. This process involves enzymatic destruction of the cells surrounding the oocytes, called cumulus oophorus. The three different partners in order to obtain normal ovulation are the oocytes, the mature follicle containing adequate LH receptors and the hormones, especially progesterone and the preovulatory LH surge. Contraceptive pills available so far contain ethynyl estradiol, in order to regulate bleedings. The different progestins in the contraceptive pill exert an antigonadotropic effect and therefore inhibit follicular recruitment. As third generation progestins exert a stronger antigonadotropic effect than previous progestins, the dose of ethynyl estradiol has been lowered in the past 50 years.

Published
2008

9. [Drug treatment of postmenopausal osteoporosis. What's New in 2006]

Author

Christian, Roux, Karine, Briot, Nathalie, Dumarcet, Michel, Bourgoin, Roland, Chapurlat, Sophie, Christin-Maitre, Bernard, Cortet, Dominique, Costagliola, Vincent, Diebolt, François, Lacoin, Brigitte, Letombe, Flavien, Oberlin, Philippe, Orcel, Philippe, Ravaud, Patrick, Seret, Thierry, Thomas, Jean-Yves, Vogel, Alexandre, Barna, Emmanuel, Nouyrigat, Marie-Laure, Veyries, and Isabelle, Yoldjian

Subjects
Adult, Time Factors, Thiophenes, Body Mass Index, Fractures, Bone, Absorptiometry, Photon, Bone Density, Risk Factors, Teriparatide, Organometallic Compounds, Humans, Osteoporosis, Postmenopausal, Aged, Aged, 80 and over, Alendronate, Bone Density Conservation Agents, Age Factors, Middle Aged, Bone Diseases, Metabolic, Raloxifene Hydrochloride, Practice Guidelines as Topic, Spinal Fractures, Female, Femoral Fractures, Follow-Up Studies, Tablets
Published
2006

10. [What is menopause?]

Author

Sophie, Ouzounian and Sophie, Christin-Maitre

Subjects
Aging, Ovarian Follicle, Humans, Female, Age of Onset, Menopause, Middle Aged, Gonadal Steroid Hormones, Aged
Abstract

Menopause is a natural phenomenon consisting in follicles atresia and decrease in ovarian hormonal secretions. The mean age of menopause is 51 years. It is known that follicles atresia is partially explained by genetics factors. During this period, we observe hormonal variations. The most important of them are an elevation of FSH level, a decrease in estrogens. We also note a variation of androgens secretion. Hypo-oestrogenia induces various clinical symptoms. Some of them occur early in menopause (climateric syndrom), others occur later (osteoporosis, cardiovascular diseases).

Published
2005

11. [Ovary genes and molecular pathology]

Author

Sophie, Christin-Maitre, Nathalie, Ronci-Chaix, and Philippe, Bouchard

Subjects
Chromosome Aberrations, Ovulation, X Chromosome, Radiotherapy, Ovary, Smoking, Gene Expression Regulation, Developmental, Apoptosis, Luteinizing Hormone, Primary Ovarian Insufficiency, Receptors, LH, Genes, Ovarian Follicle, Animals, Humans, Receptors, FSH, Female, Ovarian Diseases, Follicle Stimulating Hormone
Abstract

In the ovary, primordial follicles have to pass different stages in order to become preovulatory follicles. In the past few years, new genes and therefore new proteins have been recognized as major players in folliculogenesis. Atm, kit ligand and its receptor c-kit are necessary for the maintenance of ovarian follicle pool. GDF-9, BMP15, originating from the oocyte play a major role in early folliculogenesis. Pro and antiapoptotic proteins such as Bax and Bcl2 complete in granulosa cells, in order to maintain or not the follicle alive. FSH receptor is necessary for final follicular maturation, from the preantral stage and beyond. LH receptor is necessary for follicle ovulation. However, new genes and their regulation need to be identified as many ovarian diseases such as premature ovarian failure are not yet clarified.

Published
2002

12. Comité de rédaction de la 5e édition

Author

Philippe, Deruelle, Olivier, Graesslin, Cyril, Huissoud, Geoffroy, Robin, Claire, Bonneau, Raffaelle, Fauvet, Guillaume, Babin, Mélodie, Bereby Kahane, Pierre, Boulot, Antoine, Bourret, Florence, Bretelle, Xavier, Carcopino, Sophie, Catteau-Jonard, Pierre-François, Ceccaldi, Nathalie, Chabbert-Buffet, Isabella, Chanavaz-Lacheray, Sophie, Christin-Maître, Vincent, Cockenpot, Michel, Collet, Virginie, Collin, Marion, Cortet, Blandine, Courbière, Brigitte, David, Emile, Daraï, Julie, Delvallée, Caroline, Dubertret, Nathalie, Duvernay, Laura, Elkind, Raphaëlle, Fauvet, René, Gabriel, Justine, Gantzer, Marie, Gavrel, Gilles, Grange, Véronique, Houfflin-Debarge, Justine, Hugon-Rodin, Floriane, Jochum, Philippe, Judlin, Gilles, Kayem, Enora, Laas, Coriolan, Lebreton, Lise, Lecointre, Jacques, Lepercq, Lorraine, Maitrot-Mantelet, Odile, Maurice, Nicolas, Mottet, Nicolas, Nocart, Sylvie, Odent, Olivier, Parant, Morgane, Perrin, Charles-André, Philip, Henri-Jean, Philippe, Olivier, Piccone, Geneviève, Plu-Bureau, Benoit, Rabischong, Brigitte, Raccah-Tebeka, Ramanah, Rajeev, Horace, Roman, Damien, Sanlaville, Loïc, Senthiles, Damien, Subtil, and Éric, Verspick

Published
2021
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13. Les auteurs

Author

Geneviève, Plu-Bureau, Brigitte, Raccah-Tebeka, Florence, Trémollières, Vered, Abitbol, Gabriel, André, Jean-François, Arnal, Anne, Bachelot, Clarence, de Belilovsky, Claire, Beylot, Astrid, Blom, Léon, Boubli, Jean-Louis, Bourges, Antoine, Bourret, Gérard, Boutet, Léopoldine, Bricaire, Sophie, Christin-Maitre, Myriam, Dridi Sophie, Caroline, Dubertret, Coralie, Fontaine, Anne, Gompel, Pierre, Gourdy, Virginie, Grouthier, Naima, Hamdaoui, Claude, Hocké, Justine, Hugon-Rodin, Corinne, Lallam, Véronique, Le Guern, Françoise, Lenfant, Brigitte, Letombe, Patrice, Lopes, Sandra, Ly, Anne-Laure, Madika, Lorraine, Maitrot-Mantelet, Ianis, Marciceau, Pierre, Mares, Virginie, Monnet Corti, Claire, Mounier-Vehier, Emmanuelle, Noirrit-Esclassan, Florence, Pasquier, Olivia, Pietri, Isabelle, Ray-Coquard, Geoffroy, Robin, Christine, Rousset-Jablonski, Sarah, Tebeka, Philippe, Touraine, Blandine, Tramunt, and Marie-Cécile, Valéra

Published
2019
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14. Comité de rédaction de la 4e édition

Author

Gilles, Body, Xavier, Deffieux, Philippe, Deruelle, Olivier, Graesslin, Cyril, Huissoud, Didier, Riethmuller, Geoffroy, Robin, Pierre, Boulot, Antoine, Bourret, Florence, Bretelle, Xavier, Carcopino, Sophie, Catteau-Jonard, Pierre-François, Ceccaldi, Nathalie, Chabbert-Buffet, Sophie, Christin-Maitre, Michel, Collet, Marion, Cortet, Blandine, Courbière, Emile, Daraï, Brigitte, David, Caroline, Dubertret, Nathalie, Duvernay, Raphaëlle, Fauvet, René, Gabriel, Gilles, Grange, Véronique, Houfflin-Debarge, Justine, Hugon-Rodin, Philippe, Judlin, Gilles, Kayem, Jacques, Lepercq, Lorraine, Maitrot-Mantelet, Odile, Maurice, Nicolas, Mottet, Nicolas, Nocart, Sylvie, Odent, Olivier, Parant, Charles-André, Philip, Henri-Jean, Philippe, Olivier, Piccone, Geneviève, Plu-Bureau, Benoit, Rabischong, Brigitte, Raccah-Tebeka, Ramanah, Rajeev, Damien, Sanlaville, Loïc, Senthiles, Damien, Subtil, and Éric, Verspick

Published
2018
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15. Liste des collaborateurs

Author

Nathalie, Ambassa, Anne, Bachelot, Hortense, Baffet, Claire, Bouvattier, Maryse, Cartigny-Maciejewski, Sophie, Catteau-Jonard, Sophie, Christin-Maitre, Christine, Cortet-Rudelli, Christine, Decanter, Henri, Déchaud, Philippe, Deruelle, Didier, Dewailly, Lise, Duranteau, Gronier, Héloïse, Justine, Hugon-Rodin, Brigitte, Letombe, Wassila, Karrouz, Sylvie, Manouvrier-Hanu, Catherine, Pienkowski, Ingrid, Plotton, Chloé, Proust-Richard, Michel, Pugeat, Véronique, Raverot, Geoffroy, Robin, Charlotte, Sonigo, Maithé, Tauber, Cécile, Tomaszewski, Pascal, Vaast, Anne, Vambergue, Jean-Louis, Wemeau, and Jacques, Young

Published
2012
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16. Corrélation génotype - phénotype chez 90 patientes atteintes d'un syndrome de Turner

Author

Graff, Aurélie, Université de Picardie Jules Verne (UPJV), and Sophie Christin-Maitre

Subjects
Médecine prédictive, Phénotype, Caryotypes, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Syndrome de Turner-Albright
Abstract

Le syndrome de Turner (ST) défini par la perte complète ou partielle d'un des deux chromosomes X, est diagnostiqué le plus souvent sur un caryotype sanguin. On observe souvent une petite taille, une dysgénésie gonadique et un syndrome malformatif. L'objectif principal de l'étude est de comparer chez des femmes avec un ST le caryotype lymphocytaire et jugal. L'objectif secondaire est de corréler les résultats des différents caryotypes au phénotype clinique. Une étude de cohorte rétrospective a été réalisée entre juillet 2017 et juillet 2018 au sein du service d'endocrinologie de l'hôpital Saint Antoine, à Paris, sur 90 patientes atteintes d'un ST. Des caryotypes sur lymphocytes sanguins et sur cellules buccales ont été réalisés et les données phénotypiques recueillies grâce au dossier informatisé. Dans les mosaïques, le pourcentage de cellules 45,X était de 66,7 ± 34,2% en sanguin et de 64,7 ± 34,4% sur le caryotype jugal (p = 0,91). Le taux de matériel Y détecté est supérieur dans le caryotype sanguin versus le caryotype jugal (p = 0,03). Une corrélation positive existait entre le phénotype et le taux de cellules 45,X au caryotype jugal pour l'IOP, la bicuspidie et coarctation aortique, la mesure de l'index aortique et l'hypoacousie (p

Published
2018

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