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Isabelle Flechtner Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Magali Viaud Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Dulanjalee Kariyawasam Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Marie Perrissin-Fabert Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Maud Bidet Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France

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Anne Bachelot Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Philippe Touraine Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

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Philippe Labrune Department of Pediatrics, APHP, Centre de Référence des Maladies héréditaires du Métabolisme Hépatique, Hopital Antoine Béclère and Paris Sud University, Clamart, France

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Pascale de Lonlay Reference Center of Inherited Metabolic Diseases, Université de Paris, Necker Enfants Malades, University Hospital, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France

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Michel Polak Center for Rare Gynecological Disorders, Centre des Pathologies Gynécologiques Rares, Paris, France
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France

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-stimulating hormone (FSH), estradiol, AMH, testosterone, and inhibin B (in postpubertal patients). Males underwent assays of LH, FSH, testosterone, AMH, and inhibin B. Assay methods were as follows: electroluminescence (Beckman Coulter Diagnostics, Brea, CA) for LH

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Pamela Stratton Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA

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Neelam Giri Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Sonia Bhala Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Martha M Sklavos Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA

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Blanche P Alter Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Sharon A Savage Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Ligia A Pinto Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA

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AMH and testosterone produced by the testes ( 18 ). In males, AMH levels drop for a short time after birth, peak within 3–6 months of age, and are maintained consistently throughout infancy to childhood, and then fall prior to puberty ( 19 ). AMH

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Nancy J Olsen Division of Rheumatology, Division of Endocrinology, Diabetes, and Metabolism, College of Medicine, Milton S Hershey Medical Center, The Pennsylvania State University, Mail Code H044, 500 University Drive, Hershey, Pennsylvania 17033-0850, USA

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Ann L Benko Division of Rheumatology, Division of Endocrinology, Diabetes, and Metabolism, College of Medicine, Milton S Hershey Medical Center, The Pennsylvania State University, Mail Code H044, 500 University Drive, Hershey, Pennsylvania 17033-0850, USA

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William J Kovacs Division of Rheumatology, Division of Endocrinology, Diabetes, and Metabolism, College of Medicine, Milton S Hershey Medical Center, The Pennsylvania State University, Mail Code H044, 500 University Drive, Hershey, Pennsylvania 17033-0850, USA

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modulate autoimmunity. An association of Klinefelter's syndrome with lupus has been reported in several studies, and in isolated case reports, reversal of hypogonadism in such patients with Klinefelter's syndrome by testosterone replacement has been

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Yardena Tenenbaum-Rakover Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Rappaport Faculty of Medicine, Technion, Haifa, Israel

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Osnat Admoni Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Ghadir Elias-Assad Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Rappaport Faculty of Medicine, Technion, Haifa, Israel

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Shira London Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Marie Noufi-Barhoum Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel

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Hanna Ludar Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Tal Almagor Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Yoav Zehavi Pediatric Department, B, Ha’Emek Medical Center, Afula, Israel

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Charles Sultan Pediatric Endocrinology and Gynecology Unit, CHU de Montpellier, Hôpital Arnaud de Villeneuve et Université Montpellier, Montpellier, France

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Rita Bertalan Institute Pasteur, Rue Dr Roux, Paris, France

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Anu Bashamboo Institute Pasteur, Rue Dr Roux, Paris, France

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Kenneth McElreavey Institute Pasteur, Rue Dr Roux, Paris, France

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, FSH, testosterone, TSH, FT 4 , and cortisol were measured by direct automated chemiluminescent IRMA using the ADVIA Centaur immunoassay system (Bayer Corporation, Tarrytown, NY). 17-OHP was measured by enzyme immunoassay (IBL International GmbH

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Agnieszka Adamska Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Białystok, Białystok, Poland

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Aleksandra Maria Polak Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland

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Anna Krentowska Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland

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Agnieszka Łebkowska Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland

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Justyna Hryniewicka Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Białystok, Białystok, Poland

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Monika Leśniewska Department of Reproduction and Gynecological Endocrinology, Medical University of Białystok, Białystok, Poland

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Irina Kowalska Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland

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low-density lipoprotein cholesterol (LDL-C) was calculated according to the Friedewald’s formula. Serum FSH, LH, prolactin and total testosterone concentrations were measured by the immunoradiometric method (DIAsource ImmunoAssays, Belgium). Serum sex

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Marie Lindhardt Ljubicic Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Trine Holm Johannsen Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Margit Bistrup Fischer Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Emmie N Upners Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Alexander S Busch Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Katharina M Main Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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Anna-Maria Andersson Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Casper P Hagen Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

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simply obtained by dividing the LH concentrations (nominator) by the FSH concentrations (denominator). For concentrations below LOD, the ratios were calculated using the LOD/2 for the corresponding hormone. In a single patient, we report testosterone

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Angela Köninger Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany

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Antonella Iannaccone Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany

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Ensar Hajder Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany

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Mirjam Frank Institute for Medical Informatics, Biometry and Epidemiology (IMIBE), University of Duisburg-Essen, Essen, Germany

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Boerge Schmidt Institute for Medical Informatics, Biometry and Epidemiology (IMIBE), University of Duisburg-Essen, Essen, Germany

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Ekkehard Schleussner Department of Obstetrics, Jena University Hospital, Jena, Germany

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Rainer Kimmig Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany

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Alexandra Gellhaus Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany

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Hans Dieplinger Division of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria

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development of GDM in patients suffering from PCOS, whereas other parameters like sexual hormone-binding protein (SHBG), fasting insulin and testosterone were not predictive after multivariate analysis ( 14 , 15 ). During the course of a pregnancy, IR

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Unni Syversen Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology (NTNU), Trondheim, Norway
Department of Endocrinology, Trondheim University Hospital (St Olavs Hospital), Trondheim, Norway

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Mats Peder Mosti Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology (NTNU), Trondheim, Norway
Medical Clinic, Trondheim University Hospital (St Olavs Hospital), Trondheim, Norway

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Ida Maria Mynarek Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology (NTNU), Trondheim, Norway

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Trude Seselie Jahr Vedal Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology (NTNU), Trondheim, Norway

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Kristin Aasarød Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology (NTNU), Trondheim, Norway
Department of Gastroenterology, Trondheim University Hospital (St Olavs Hospital), Trondheim, Norway

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Trude Basso Department of Orthopedics, Trondheim University Hospital (St Olavs Hospital), Trondheim, Norway

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Janne E Reseland Department of Biomaterials, University of Oslo, Oslo, Norway

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Per Medbøe Thorsby Hormone Laboratory, Department of Medical Biochemistry, Oslo University Hospital, Aker, Oslo, Norway

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Bjorn O Asvold Department of Endocrinology, Trondheim University Hospital (St Olavs Hospital), Trondheim, Norway
K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Trondheim, Norway

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Erik Fink Eriksen Department of Biomaterials, University of Oslo, Oslo, Norway

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Astrid Kamilla Stunes Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology (NTNU), Trondheim, Norway
Medical Clinic, Trondheim University Hospital (St Olavs Hospital), Trondheim, Norway

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diabetes complications. Biochemical analyses HbA 1c was analyzed in full blood. Serum 25-hydroxy vitamin D (25OH(D)), parathyroid hormone (PTH), ionized Ca, phosphate, albumin, Mg, creatinine, folic acid, ferritin, testosterone and sex hormone

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Brenda Anguiano Departamento de Neurobiología Celular y Molecular, Instituto de Neurobiología, Universidad Nacional Autónoma de México, Campus Juriquilla, Querétaro, México

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Carlos Montes de Oca Departamento de Neurobiología Celular y Molecular, Instituto de Neurobiología, Universidad Nacional Autónoma de México, Campus Juriquilla, Querétaro, México

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Evangelina Delgado-González Departamento de Neurobiología Celular y Molecular, Instituto de Neurobiología, Universidad Nacional Autónoma de México, Campus Juriquilla, Querétaro, México

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Carmen Aceves Departamento de Neurobiología Celular y Molecular, Instituto de Neurobiología, Universidad Nacional Autónoma de México, Campus Juriquilla, Querétaro, México

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deficiency occurs ( Fig. 1 ). In adult rats, gestational hypothyroidism induced from days 9 to 14 or 21 post-coitum decreases the ventral lobe size and diminishes the testosterone levels, even with high levels of expression and binding capacity of the

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Catarina I Gonçalves CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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José M Aragüés Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Lisboa, Portugal

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Margarida Bastos Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Luísa Barros Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Nuno Vicente Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Davide Carvalho Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de São João e Faculdade de Medicina do Porto, Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal

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Manuel C Lemos CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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) Mutations 1 II-3 M 18.5 Delayed puberty. Micropenis. Tanner stage 3. Testicular volume 3 mL Normal Surgery for right-sided cryptorchidism at age 1.5 years FSH 1.2 IU/mL (1.0–8.0); LH 0.5 IU/mL (0.7–7.2); total testosterone 0.20 ng

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