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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

2. Type 1 Diabetes in People Hospitalized for COVID-19: New Insights From the CORONADO Study

Author

Sandrine Lablanche, Florence Galtier, Pierre Leroy, Vincent Dubée, Dominique Bonnefont-Rousselot, Patrick Saulnier, Matthieu Wargny, Manuel Etienne, Patrice Darmon, Anne-Laure Borel, Jean-Louis LAPLANCHE, Olivier Lesieur, Bertrand Cariou, Malak Taher, Lydia GUITTET, Vincent Minville, BRUNO MOURVILLIER, Jean-Pierre QUENOT, Bernard Bonnotte, Lucien Marchand, Team2 Carmen, Veronique Kerlan, Pascal Reynier, Nadia Sabbah, Matthieu PICHELIN, Jean-Charles Aurégan, Guillaume Martin-Blondel, Olivier Bourron, Blandine Rammaert, Pierre-Edouard Fournier, Coralie Amadou, Giulia Chinetti, Jean-Christophe Lagier, Didier Raoult, Centre hospitalier universitaire de Nantes (CHU Nantes), Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre Hospitalier Sud Francilien, Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Service d'endocrinologie, diabétologie et nutrition [CHU Bichat], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Cité (UPCité), Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Recherches Translationnelles sur le VIH et les maladies infectieuses endémiques et émergentes (TransVIHMI), Institut de Recherche pour le Développement (IRD)-Université de Yaoundé I-Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Pathogénèse et contrôle des infections chroniques (PCCI), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Diabétologie [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), 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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CH Evry-Corbeil, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université de Paris (UP), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-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), Recherches Translationnelles sur le VIH et les maladies infectieuses endémiques er émergentes (TransVIHMI), Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Institut de Recherche pour le Développement (IRD)-Université de Yaoundé I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Université Montpellier 1 (UM1), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Service de diabétologie [CHU Pitié-Salpétrière], Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Paris (UP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Gestionnaire, Hal Sorbonne Université

Subjects
Male, Pediatrics, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Pneumonia, Viral, Population, 030209 endocrinology & metabolism, law.invention, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, law, Diabetes mellitus, Internal Medicine, medicine, Clinical endpoint, Humans, 030212 general & internal medicine, education, Pandemics, Case report form, ComputingMilieux_MISCELLANEOUS, Aged, Aged, 80 and over, Glycated Hemoglobin, Advanced and Specialized Nursing, Inpatients, Type 1 diabetes, education.field_of_study, business.industry, e-Letters: Observations, COVID-19, Middle Aged, Prognosis, medicine.disease, Respiration, Artificial, Intensive care unit, 3. Good health, [SDV] Life Sciences [q-bio], Diabetes Mellitus, Type 2, Hypertension, Etiology, Female, Observational study, Coronavirus Infections, business
Abstract

Since the start of the coronavirus disease 2019 (COVID-19) pandemic, patients with diabetes were rapidly recognized as a high-risk population for severe disease. Indeed, a high prevalence of diabetes among patients with COVID-19 who required hospitalization has been consistently reported, reaching 33.8% in 5,700 people hospitalized for COVID-19 in the New York City area (1). In addition, diabetes was associated with more than a doubled risk of intensive care unit (ICU) admission and more than a tripled risk of death (2). However, precise data regarding the type of diabetes are scarce. We report here the clinical characteristics and early prognosis of patients with type 1 diabetes (T1D) hospitalized for COVID-19 in the nationwide multicenter observational CORONADO (Coronavirus SARS-CoV-2 and Diabetes Outcomes) study (3). The aim of the CORONADO study was to describe the phenotypic characteristics and prognosis of patients with diabetes admitted with COVID-19 between 10 March and 10 April 2020 in 68 French hospitals. The protocol (ClinicalTrials.gov reg. no. NCT04324736) obtained all regulatory approvals as recently described (3). Inclusion criteria were 1 ) hospitalization for biologically and/or clinically/radiologically attested COVID-19 and 2 ) personal history of diabetes or newly diagnosed diabetes on admission. The composite primary end point combined tracheal intubation for mechanical ventilation and/or death on day 7 (D7). Secondary outcomes included death, tracheal intubation, and discharge on D7. Classification of diabetes was recorded in the electronic case report form as noted in the medical file by the physician in charge of the patient. In the present subanalysis, patients in whom diabetes was diagnosed on admission were excluded since the etiological diagnosis had not been formally established. All cases noted as T1D were carefully reviewed by local investigators and the steering committee …

Published
2020

3. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Author

Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal, Sabrina Da Costa, Claire Dossier, Stephane Ederhy, Monique Elmaleh, Laurence Iserin, Hélène Lengliné, Armelle Poujol-Robert, Dominique Roulot, Jerome Viala, Frederique Albarel, Elise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert-Buffet, Philippe Chanson, Regis Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, Mickaël Grynberg, Karinne Gueniche, Carina Jorgensen, Veronique Kerlan, Charlotte Lebrun, Christine Lefevre, Françoise Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean-Pierre Siffroi, Anne-Claude Tabet, Maithé Tauber, Vanessa Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zenaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean-Claude Carel, Sophie Christin-Maitre, Juliane Léger, 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), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Saint-Antoine [AP-HP], 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), CHU Trousseau [APHP], CHU Pitié-Salpêtrière [AP-HP], Département d'obstétrique et de gynécologie [Hôpital Robert Debré], Université Paris Diderot - Paris 7 (UPD7)-AP-HP Hôpital universitaire Robert-Debré [Paris], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Charles Foix [AP-HP], Service de Rhumatologie [CHU Lariboisière], Hôpital Lariboisière-Fernand-Widal [APHP], Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Hôpital Avicenne [AP-HP], Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], Aix Marseille Université (AMU), CHU de Bordeaux Pellegrin [Bordeaux], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hospices Civils de Lyon (HCL), CHU Tenon [AP-HP], 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 Jean Verdier [AP-HP], Service Endocrinologie - Diabétologie [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), AP-HP - Hôpital Antoine Béclère [Clamart], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hôpital Jeanne de Flandre [Lille], Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), 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), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], CHU Clermont-Ferrand, 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), and Ministère de la Santé

Subjects
Adult, Chromosomes, Human, X, Karyotype, Turner’s syndrome, Turner Syndrome, General Medicine, Recommendation, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Adulthood, Childhood, Management, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Diabetes Mellitus, Type 2, Karyotyping, Diagnosis, Humans, Pharmacology (medical), Female, Genetics (clinical)
Abstract

Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40–50%) and the 45,X/46,XX mosaic karyotype (15–25%). Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y chromosome, X ring chromosome or deletions of the X chromosome are less frequent. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available from the French Health Authority website. Turner Syndrome is associated with several phenotypic conditions and a higher risk of comorbidity. The most frequently reported features are growth retardation with short adult stature and gonadal dysgenesis. TS may be associated with various congenital (heart and kidney) or acquired diseases (autoimmune thyroid disease, celiac disease, hearing loss, overweight/obesity, glucose intolerance/type 2 diabetes, dyslipidemia, cardiovascular complications and liver dysfunction). Most of the clinical traits of TS are due to the haploinsufficiency of various genes on the X chromosome, particularly those in the pseudoautosomal regions (PAR 1 and PAR 2), which normally escape the physiological process of X inactivation, although other regions may also be implicated. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are designed to provide such support.

Published
2022

4. Lixisenatide in Patients with Type 2 Diabetes and Acute Coronary Syndrome

Author

YAN CARLOS DUARTE VERA, Lars Kober, Thomas Pieber, Cafer Zorkun, Ponnusamy Saravanan, Cristian Podoleanu, Andrzej Lubiński, Aldo Pietro Maggioni, Francisco Marin, Yusuf Bozkuş, Martin Gibson, Bertrand Cariou, Anna Vittoria Ciardullo, Neslihan Bascil Tutuncu, Vladimir Rafalskiy, Vladimir Zadionchenko, John Mcmurray, Paramesh S, Fernando Lanas, Veronique Kerlan, Jose Sgarbi, Hertzel Gerstein, Fernando Manzur, SONIA GAZTAMBIDE, Alan Jaap, Pfeffer MA, Claggett B, Diaz R, Dickstein K, Gerstein HC, Køber LV, Lawson FC, Ping L, Wei X, Lewis EF, Maggioni AP, McMurray JJ, Probstfield JL, Riddle MC, Solomon SD, Tardif JC, ELIXA Investigators., Giordano, C., Pfeffer, Ma, Claggett, B, Diaz, R, Dickstein, K, Gerstein, Hc, Køber, Lv, Lawson, Fc, Ping, L, Wei, X, Lewis, Ef, Maggioni, Ap, Mcmurray, Jj, Probstfield, Jl, Riddle, Mc, Solomon, Sd, Tardif, Jc, Rivellese, ANGELA ALBAROSA, University of Zurich, and Pfeffer, Marc A

Subjects
Male, Myocardial Infarction, Kaplan-Meier Estimate, 2700 General Medicine, Type 2 diabetes, Angina, chemistry.chemical_compound, Treatment Failure, Myocardial infarction, Research Support, Non-U.S. Gov't, Hemoglobin A, General Medicine, Middle Aged, Multicenter Study, Cardiovascular Diseases, Randomized Controlled Trial, Cardiology, Female, lixisenatide, Type 2, medicine.medical_specialty, Acute coronary syndrome, Glycosylated, 610 Medicine & health, Unstable, Glucagon-Like Peptide-1 Receptor, 11171 Cardiocentro Ticino, Lixisenatide, Acute Coronary Syndrome, Aged, Angina, Unstable, Diabetes Mellitus, Type 2, Hemoglobin A, Glycosylated, Humans, Hypoglycemic Agents, Peptides, Proportional Hazards Models, Internal medicine, Journal Article, Diabetes Mellitus, medicine, Unstable angina, business.industry, Semaglutide, ta3121, medicine.disease, chemistry, Myocardial infarction complications, business
Abstract

BACKGROUND: Cardiovascular morbidity and mortality are higher among patients with type 2 diabetes, particularly those with concomitant cardiovascular diseases, than in most other populations. We assessed the effects of lixisenatide, a glucagon-like peptide 1-receptor agonist, on cardiovascular outcomes in patients with type 2 diabetes who had had a recent acute coronary event.METHODS: We randomly assigned patients with type 2 diabetes who had had a myocardial infarction or who had been hospitalized for unstable angina within the previous 180 days to receive lixisenatide or placebo in addition to locally determined standards of care. The trial was designed with adequate statistical power to assess whether lixisenatide was noninferior as well as superior to placebo, as defined by an upper boundary of the 95% confidence interval for the hazard ratio of less than 1.3 and 1.0, respectively, for the primary composite end point of cardiovascular death, myocardial infarction, stroke, or hospitalization for unstable angina.RESULTS: The 6068 patients who underwent randomization were followed for a median of 25 months. A primary end-point event occurred in 406 patients (13.4%) in the lixisenatide group and in 399 (13.2%) in the placebo group (hazard ratio, 1.02; 95% confidence interval [CI], 0.89 to 1.17), which showed the noninferiority of lixisenatide to placebo (PCONCLUSIONS: In patients with type 2 diabetes and a recent acute coronary syndrome, the addition of lixisenatide to usual care did not significantly alter the rate of major cardiovascular events or other serious adverse events. (Funded by Sanofi; ELIXA ClinicalTrials.gov number, NCT01147250.).

Published
2015

5. Effect of candesartan on progression and regression of retinopathy in type 2 diabetes (DIRECT-Protect 2): a randomised placebo-controlled trial

Author

Bart Keymeulen, Trevor Orchard, Selcuk Dagdelen, Ivan I. Dedov, Veronique Kerlan, Steve Aldington, Massimo Porta, Ronald Klein, Peter Rossing, Pathology/molecular and cellular medicine, Diabetes Pathology & Therapy, and Diabetes Clinic

Subjects
Adult, Male, medicine.medical_specialty, Endpoint Determination, Benzimidazoles/adverse effects, Endocrinology, Diabetes and Metabolism, Placebo-controlled study, Hypoglycemic Agents/therapeutic use, Type 2 diabetes, Placebo, Severity of Illness Index, law.invention, Hypertension/complications, Double-Blind Method, Randomized controlled trial, law, Internal medicine, medicine, Clinical endpoint, Humans, Aged, Dose-Response Relationship, Drug, business.industry, Diabetes Mellitus, Type 2/complications, Diabetic Retinopathy/classification, General Medicine, Diabetic retinopathy, Middle Aged, medicine.disease, Surgery, Candesartan, Female, Angiotensin II Type 1 Receptor Blockers/adverse effects, Tetrazoles/adverse effects, business, medicine.drug, Retinopathy
Abstract

Summary Background Diabetic retinopathy remains a leading cause of visual loss in people of working age. We examined whether candesartan treatment could slow the progression and, secondly, induce regression of retinopathy in people with type 2 diabetes. Methods We did a randomised, double-blind, parallel-group, placebo-controlled trial in 309 centres worldwide. We recruited normoalbuminuric, normotensive, or treated hypertensive people with type 2 diabetes with mild to moderately severe retinopathy and assigned them to candesartan 16 mg once a day or placebo. After a month, the dose was doubled to 32 mg once per day. Investigators and patients were unaware of the treatment allocation status. Progression of retinopathy was the primary endpoint, and regression was a secondary endpoint. Analysis was by intention to treat. The trial is registered with ClinicalTrials.gov, number NCT00252694. Findings 1905 participants (aged 37–75 years) were randomised to candesartan (n=951) or placebo (n=954). 161 (17%) patients in the candesartan group and 182 (19%) in the placebo group had progression of retinopathy by three steps or more on the Early Treatment Diabetic Retinopathy Study scale. The risk of progression of retinopathy was non-significantly reduced by 13% in patients on candesartan compared with those on placebo (hazard ratio [HR] 0·87, 95% CI 0·70–1·08, p=0·20). Regression on active treatment was increased by 34% (1·34, 1·08–1·68, p=0·009). HRs were not attenuated by adjustment for baseline risk factors or changes in blood pressure during the trial. An overall change towards less severe retinopathy by the end of the trial was observed in the candesartan group (odds 1·17, 95% CI 1·05–1·30, p=0·003). Adverse events did not differ between the treatment groups. Interpretation Treatment with candesartan in type 2 diabetic patients with mild to moderate retinopathy might induce improvement of retinopathy. Funding AstraZeneca and Takeda.

Published
2008

6. n-3 fatty acids and cardiovascular outcomes in patients with dysglycemia

Author

David Clayton, Robert Cuddihy, Jose Antônio Marin-Neto, Jeanne Clark, Esra Hatipoglu, Mohd Shazli Draman, Alfredo Ramirez, Philip Böhme, Victor Gurevich, Miguel Urina, Angel L. Fernández, Maja Cigrovski Berkovic, Valdis Pirags, Evgeny Shkolnik, Alexander Vonbank, Salim Yusuf, Heather Lochnan, Jan Cornel, Bu Yeap, Tatiana Adasheva, Giuseppe Derosa, Aldo Pietro Maggioni, ALVARO AVEZUM, Igor Bondarenko, Monica Acevedo, Francesco Cacciatore, A.S. Ametov, Weiping Jia, Iana Orlova, Anders Waldenström, B. L. Gregoire Nyomba, Neslihan Bascil Tutuncu, Tristan Richardson, Anastasia F Hutchinson, Vladimir Zadionchenko, Sudeep K, Moti Kashyap, Adrian Vlad, Aivars Lejnieks, Jeong-Taek Woo, Fernando Lanas, Nicolae Hancu, Kurt Boman, Cristina Facanha, Laura Bryan, Louise Bordeleau, Patricio Lopez-Jaramillo, Adriana Forti, Flavia Lucia Lombardo, Gunnar Gislason, Malgorzata Sikora-Frac, Peter Colman, Veronique Kerlan, Olga Bulkina, Melanie Davies, Maira Marino, JAIME CARMONA-HUERTA, Hertzel Gerstein, Jackie Bosch, Carlos Morillo, Alina Babenko, Philip Aylward, SONIA GAZTAMBIDE, Yury Vasyuk, Asem Ali, Ragnar Martin Joakimsen, Anna Novials, Andrzej Budaj, Anne Taylor, Department of General Surgery. Surgical Oncology Unit, Reina Sofía University Hospital, Population Health Research Institute, Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Service d'Endocrinologie (CHRU - Endocrino), and Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)

Subjects
Male, MESH: Treatment Failure, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Insulin Glargine, 030204 cardiovascular system & hematology, MESH: Intention to Treat Analysis, MESH: Proportional Hazards Models, chemistry.chemical_compound, 0302 clinical medicine, MESH: Cholesterol, dysglycemia, MESH: Fatty Acids, Omega-3, MESH: Double-Blind Method, Treatment Failure, 030212 general & internal medicine, MESH: Incidence, MESH: Aged, MESH: Middle Aged, Dysglycemia, cardiovascular events, Incidence, General Medicine, MESH: Follow-Up Studies, Middle Aged, INFARTO DO MIOCÁRDIO, Intention to Treat Analysis, 3. Good health, Insulin, Long-Acting, Cholesterol, Cardiovascular Diseases, n-3 fatty acid, Cardiology, Drug Therapy, Combination, Female, medicine.drug, MESH: Diabetes Mellitus, Type 2, MESH: Triglycerides, medicine.medical_specialty, MACE diabetes glargin, 03 medical and health sciences, Pharmacotherapy, Double-Blind Method, Internal medicine, Diabetes mellitus, MESH: Hypoglycemic Agents, Fatty Acids, Omega-3, Glucose Intolerance, medicine, Humans, Hypoglycemic Agents, Triglycerides, MESH: Glucose Intolerance, Aged, Proportional Hazards Models, Intention-to-treat analysis, MESH: Humans, business.industry, Insulin glargine, Proportional hazards model, Insulin, MESH: Cardiovascular Diseases, medicine.disease, MESH: Male, MESH: Drug Therapy, Combination, Endocrinology, Diabetes Mellitus, Type 2, chemistry, Heart failure, MESH: Insulin, Long-Acting, business, MESH: Female, Follow-Up Studies
Abstract

International audience; BACKGROUND: The use of n-3 fatty acids may prevent cardiovascular events in patients with recent myocardial infarction or heart failure. Their effects in patients with (or at risk for) type 2 diabetes mellitus are unknown. METHODS: In this double-blind study with a 2-by-2 factorial design, we randomly assigned 12,536 patients who were at high risk for cardiovascular events and had impaired fasting glucose, impaired glucose tolerance, or diabetes to receive a 1-g capsule containing at least 900 mg (90% or more) of ethyl esters of n-3 fatty acids or placebo daily and to receive either insulin glargine or standard care. The primary outcome was death from cardiovascular causes. The results of the comparison between n-3 fatty acids and placebo are reported here. RESULTS: During a median follow up of 6.2 years, the incidence of the primary outcome was not significantly decreased among patients receiving n-3 fatty acids, as compared with those receiving placebo (574 patients [9.1%] vs. 581 patients [9.3%]; hazard ratio, 0.98; 95% confidence interval [CI], 0.87 to 1.10; P=0.72). The use of n-3 fatty acids also had no significant effect on the rates of major vascular events (1034 patients [16.5%] vs. 1017 patients [16.3%]; hazard ratio, 1.01; 95% CI, 0.93 to 1.10; P=0.81), death from any cause (951 [15.1%] vs. 964 [15.4%]; hazard ratio, 0.98; 95% CI, 0.89 to 1.07; P=0.63), or death from arrhythmia (288 [4.6%] vs. 259 [4.1%]; hazard ratio, 1.10; 95% CI, 0.93 to 1.30; P=0.26). Triglyceride levels were reduced by 14.5 mg per deciliter (0.16 mmol per liter) more among patients receiving n-3 fatty acids than among those receiving placebo (P

Published
2012

7. Basal insulin and cardiovascular and other outcomes in dysglycemia

Author

David Clayton, Robert Cuddihy, Jose Antônio Marin-Neto, Esra Hatipoglu, Mohd Shazli Draman, Alfredo Ramirez, Philip Böhme, Victor Gurevich, Miguel Urina, Angel L. Fernández, Maja Cigrovski Berkovic, Valdis Pirags, Evgeny Shkolnik, Alexander Vonbank, Salim Yusuf, Heather Lochnan, Jan Cornel, Bu Yeap, Tatiana Adasheva, Giuseppe Derosa, Aldo Pietro Maggioni, ALVARO AVEZUM, Igor Bondarenko, Monica Acevedo, Francesco Cacciatore, A.S. Ametov, Weiping Jia, Anders Waldenström, B. L. Gregoire Nyomba, Neslihan Bascil Tutuncu, Tristan Richardson, Anastasia F Hutchinson, Vladimir Zadionchenko, Sudeep K, Moti Kashyap, Adrian Vlad, Aivars Lejnieks, Jeong-Taek Woo, Fernando Lanas, Nicolae Hancu, Kurt Boman, Cristina Facanha, Laura Bryan, Louise Bordeleau, Patricio Lopez-Jaramillo, Adriana Forti, Flavia Lucia Lombardo, Gunnar Gislason, Malgorzata Sikora-Frac, Peter Colman, Veronique Kerlan, Olga Bulkina, Melanie Davies, JAIME CARMONA-HUERTA, Hertzel Gerstein, Jackie Bosch, Carlos Morillo, Alina Babenko, Philip Aylward, SONIA GAZTAMBIDE, Yury Vasyuk, Asem Ali, Ragnar Martin Joakimsen, Anna Novials, Andrzej Budaj, Anne Taylor, Department of Medicine (DM - McMaster), McMaster University [Hamilton, Ontario], Population Health Research Institute, Institut Universitaire de Cardiologie (QUEBEC - IUCP), Institut Universitaire de Cardiologie et de Pneumologie de Québec (IUCPQ), Université Laval [Québec] (ULaval)-Université Laval [Québec] (ULaval), Department of General Surgery. Surgical Oncology Unit, Reina Sofía University Hospital, Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Service d'Endocrinologie (CHRU - Endocrino), and Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)

Subjects
Blood Glucose, Male, MESH: Hypoglycemia, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Insulin Glargine, Type 2 diabetes, MESH: Hospitalization, 030204 cardiovascular system & hematology, MESH: Intention to Treat Analysis, Impaired glucose tolerance, MESH: Proportional Hazards Models, 0302 clinical medicine, MESH: Cholesterol, MESH: Fatty Acids, Omega-3, dysglycemia, MESH: Double-Blind Method, Basal insulin, MESH: Incidence, MESH: Aged, MESH: Middle Aged, Incidence, Hazard ratio, Fasting, General Medicine, MESH: Follow-Up Studies, Middle Aged, Intention to Treat Analysis, 3. Good health, Hospitalization, Insulin, Long-Acting, Cholesterol, Cardiovascular Diseases, Drug Therapy, Combination, Female, medicine.drug, MESH: Diabetes Mellitus, Type 2, MESH: Triglycerides, medicine.medical_specialty, MACE diabetes glargin, MESH: Fasting, HIPOGLICEMIA, 030209 endocrinology & metabolism, Hypoglycemia, 03 medical and health sciences, Double-Blind Method, Diabetes mellitus, Internal medicine, MESH: Hypoglycemic Agents, Fatty Acids, Omega-3, Glucose Intolerance, medicine, Humans, Hypoglycemic Agents, Triglycerides, MESH: Glucose Intolerance, Aged, Proportional Hazards Models, MESH: Humans, business.industry, Insulin glargine, Insulin, MESH: Cardiovascular Diseases, medicine.disease, Impaired fasting glucose, MESH: Male, basal insulin, MESH: Drug Therapy, Combination, Endocrinology, Diabetes Mellitus, Type 2, MESH: Blood Glucose, MESH: Insulin, Long-Acting, business, MESH: Female, Follow-Up Studies
Abstract

International audience; BACKGROUND: The provision of sufficient basal insulin to normalize fasting plasma glucose levels may reduce cardiovascular events, but such a possibility has not been formally tested. METHODS: We randomly assigned 12,537 people (mean age, 63.5 years) with cardiovascular risk factors plus impaired fasting glucose, impaired glucose tolerance, or type 2 diabetes to receive insulin glargine (with a target fasting blood glucose level of ≤95 mg per deciliter [5.3 mmol per liter]) or standard care and to receive n-3 fatty acids or placebo with the use of a 2-by-2 factorial design. The results of the comparison between insulin glargine and standard care are reported here. The coprimary outcomes were nonfatal myocardial infarction, nonfatal stroke, or death from cardiovascular causes and these events plus revascularization or hospitalization for heart failure. Microvascular outcomes, incident diabetes, hypoglycemia, weight, and cancers were also compared between groups. RESULTS: The median follow-up was 6.2 years (interquartile range, 5.8 to 6.7). Rates of incident cardiovascular outcomes were similar in the insulin-glargine and standard-care groups: 2.94 and 2.85 per 100 person-years, respectively, for the first coprimary outcome (hazard ratio, 1.02; 95% confidence interval [CI], 0.94 to 1.11; P=0.63) and 5.52 and 5.28 per 100 person-years, respectively, for the second coprimary outcome (hazard ratio, 1.04; 95% CI, 0.97 to 1.11; P=0.27). New diabetes was diagnosed approximately 3 months after therapy was stopped among 30% versus 35% of 1456 participants without baseline diabetes (odds ratio, 0.80; 95% CI, 0.64 to 1.00; P=0.05). Rates of severe hypoglycemia were 1.00 versus 0.31 per 100 person-years. Median weight increased by 1.6 kg in the insulin-glargine group and fell by 0.5 kg in the standard-care group. There was no significant difference in cancers (hazard ratio, 1.00; 95% CI, 0.88 to 1.13; P=0.97). CONCLUSIONS: When used to target normal fasting plasma glucose levels for more than 6 years, insulin glargine had a neutral effect on cardiovascular outcomes and cancers. Although it reduced new-onset diabetes, insulin glargine also increased hypoglycemia and modestly increased weight. (Funded by Sanofi; ORIGIN ClinicalTrials.gov number, NCT00069784.).

Published
2012

8. [Inappropriate secretion of antidiuretic hormone and diabetes insipidus after surgery for pituitary adenoma]

Author

Ionescu O, Sonnet E, Roudaut N, Jp, Bercovici, and veronique kerlan

Subjects
Adenoma, Adult, Male, Adolescent, Middle Aged, Inappropriate ADH Syndrome, Postoperative Complications, Risk Factors, Humans, Female, Pituitary Neoplasms, Child, Diabetes Insipidus, Aged, Retrospective Studies
Abstract

The purpose of our study was to evaluate the incidence and risk factors of SIADH (syndrome of inappropriate antidiuretic hormone) and diabetes insipidus after pituitary adenoma surgery in patients and report follow-up data collected in our department of endocrinology. This retrospective study included 78 patients seen in the last 5 years. Possible risk factors of SIADH and diabetes insipidus were studies: patient age and gender, type of secretion, tumor volume, surgical approach, presence of postoperative pituitary failure. The incidence of SIADH and diabetes insipidus were similar: 12.8%. We did not find any risk factor for SIADH associated with postoperative anterior pituitary failure. This study illustrates the importance of postoperative follow-up after pituitary adenoma surgery.

Published
2004

9. [Evolution of levels of free thyroxine and thyrotropin in treated Cushing disease]

Author

Monguillon P, veronique kerlan, Jp, Codet, and Jp, Bercovici

Subjects
Adult, Male, Postoperative Care, Reoperation, Adolescent, Hydrocortisone, Thyrotropin, Middle Aged, Combined Modality Therapy, Thyroxine, Preoperative Care, Humans, Female, Cushing Syndrome, Retrospective Studies
Abstract

Determine the frequency and changes in thyroid hormones in Cushing's disease.Free thyroxin and thyrotropin levels were measured in 11 patients (age range 17 to 60 years) with Cushing's disease both before and after resection of the pituitary adenoma.Free thyroxin levels were low (8.3 to 11.7 pmol/l) in 7 patients. These patients had no clinical manifestations of hypothyroidism. In 4 patients, cure of the pituitary adenoma led to normalization of the thyroid hormones 10 days after operation (13 to 55 pmol/l); in the other cases surgical cure was unsuccessful and thyroxin levels remained low. Cortisol levels were finally normalized in these patients after irradiation of the pituitary, a second pituitary operation, or bilateral resection of the adrenal glands in 2 patients. Normal thyroxin levels were thus achieved. There was no correlation between serum cortisol and free thyroxin.Thyroid hormones should be assayed regularly in patients with Cushing's disease as a supplementary control of treatment effectiveness.

Published
1995

11. [Estrogen-progestogen agents and megaloblastic anemia]

Author

Mottier D, Jouquan J, Baccino E, Cleuziou A, Pennec Y, veronique kerlan, Garo B, and Bergeret G

Subjects
Adult, Contraceptives, Oral, Combined, Anemia, Megaloblastic, Norgestrienone, Norgestrel, Humans, Female, Anemia, Macrocytic, Ethinyl Estradiol, Contraceptives, Oral
Abstract

TwO cases of megaloblastic anaemia, of which one was very severe, occurring in women who had been taking oestrogen-progestogen oral contraception over a long period of time, are reported. The authors take the opportunity, after having reviewed the literature, of pointing out the role of oestro-progestogen products in bringing about vitamin deficiencies. They discuss how and where oestrogen-progestogen products work on folic metabolism and emphasize that there is an associated factor which starts off the deficiencies.

Published
1984

12. [Pregnancy: a way of recovering from prolactin-secreting adenoma? 18 cases]

Author

Bricaire C, veronique kerlan, Kuttenn F, and Mauvais-Jarvis P

Subjects
Adult, Radiography, Necrosis, Pregnancy, Postpartum Period, Humans, Female, Pituitary Neoplasms, Prolactinoma, Prolactin
Abstract

Fifteen patients with prolactin-secreting pituitary adenoma completed a total of 18 pregnancies. Changes in blood prolactin levels and computerized tomographic images of the pituitary gland were studied. No increase in size of the adenoma was observed, and in 2 cases the tumour was found to be necrotic in the post-partum period. In all patients the prolactinaemia significantly decreased immediately after delivery. Thus, by inducing partial necrosis of the adenoma pregnancy may result in post-partum reduction of blood prolactin levels.

Published
1988

13. [Intracardiac ectopic thyroid]

Author

veronique kerlan, Jobic Y, Boschat J, Ja, Barra, Penther P, and Jp, Bercovici

Subjects
Heart Neoplasms, Heart Ventricles, Thyroid Gland, Humans, Female, Choristoma, Middle Aged, Cardiomyopathies
Abstract

Intracardiac ectopic thyroid tissue was removed in a 51 years old woman, after echography has discovered a tumor in the right ventricle. There was a normal thyroid gland in the neck and thyroid function tests were normal. Intra-cardiac ectopic thyroid tissue is very rare; it is due to an abnormality of embryological development, when thyroid anlage is in close contact with the embryonic heart.

14. [Serologically detected HY antigen and its regulation]

Author

Amice J, Amice V, veronique kerlan, and Jp, Bercovici

Subjects
Male, Gene Expression Regulation, H-Y Antigen, Testis, Humans, Female, Gonadal Dysgenesis
Abstract

The serologically detected, male predominant s HY Ag is a surface glycoprotein. The structural gene would be located on the 6th chromosome and regulated by gonosomal genes. The presence of testes (or testicular remenants) is linked to the s HY antigen expression in most abnormalities of sexual differentiation. However, the basal s HY Ag value is sometimes increased in the absence of any testicular tissue, as in virilized females (21-hydroxylase deficiency, idiopathic or ovarian hirsutism). Homogametic sex s HY Ag may increase to heterogametic sex values under the action of androgens in mammals and that of oestrogens in birds.

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