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Heike Hoyer-Kuhn Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany

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Angela Huebner Department of Paediatrics, University Children’s Hospital Dresden, Dresden, Germany

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Anette Richter-Unruh University Children’s Hospital Bochum, Bochum, Nordrhein-Westfalen, Germany

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Markus Bettendorf University Children’s Hospital Heidelberg, Heidelberg, Germany

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Tilman Rohrer University Children’s Hospital Homburg, Homburg, Germany

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Klaus Kapelari University Children’s Hospital Innsbruck, Innsbruck, Austria

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Stefan Riedl Department of Pediatric, Medical University of Vienna, Vienna, Austria
St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria

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Klaus Mohnike Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany

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Helmuth-Günther Dörr University Children’s Hospital Erlangen, Erlangen, Germany

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Friedrich-Wilhelm Roehl Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Sachsen-Anhalt, Germany

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Katharina Fink Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany

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Reinhard W Holl Institute of Epidemiology and Medical Biometry, ZIBMT, University of Ulm, Ulm, Germany

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Joachim Woelfle University Children’s Hospital Erlangen, Erlangen, Germany

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Introduction Classic congenital adrenal hyperplasia (CAH) is a hereditary autosomal recessive condition affecting adrenal steroidogenesis. Most of the cases (90–95%) are caused by mutations in the 21-hydroxylase gene ( CYP21A2 ) leading to

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Mirjana Doknic Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, Belgrade, Serbia
Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Marko Stojanovic Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, Belgrade, Serbia
Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Ivan Soldatovic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Institute of Medical Statistics and Informatics, Belgrade, Serbia

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Tatjana Milenkovic Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia

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Vera Zdravkovic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
University Children’s Clinic, Belgrade, Serbia

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Maja Jesic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
University Children’s Clinic, Belgrade, Serbia

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Sladjana Todorovic Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia

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Katarina Mitrovic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia

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Rade Vukovic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia

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Dragana Miljic Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, Belgrade, Serbia
Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Dragan Savic Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia

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Mihajlo Milicevic Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia

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Aleksandar Stanimirovic Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia

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Vojislav Bogosavljevic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia

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Sandra Pekic Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, Belgrade, Serbia
Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Emilija Manojlovic-Gacic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Institute of Pathology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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Aleksandar Djukic Department of Pathophysiology, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia

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Danica Grujicic Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia

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Milan Petakov Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, Belgrade, Serbia
Faculty of Medicine, University of Belgrade, Belgrade, Serbia

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comparison of following subgroups: (i) according to etiology (congenital vs tumor-related vs idiopathic COGHD); (ii) COGHD treated in childhood with rhGH vs COGHD untreated with rhGH before TP; (iii) persistent vs transient GHD group after retesting in TP

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Enora Le Roux Université de Paris, ECEVE UMR 1123, Inserm, Paris, France
AP-HP.Nord-Université de Paris, Hôpital Universitaire Robert Debré, Unité d’Épidémiologie Clinique, Inserm, Paris, France

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Florence Menesguen AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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Isabelle Tejedor AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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Marc Popelier AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Diabétologie, Paris, France

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Marine Halbron AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Diabétologie, Paris, France

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Pauline Faucher AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Nutrition, Centre du Syndrome de Prader-Willi et Autres Obésités Rares, Paris, France

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Sabine Malivoir AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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Graziella Pinto AP-HP.Université de Paris Centre, Hôpital Universitaire Necker Enfants Malades, Département d’Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Paris, France; Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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Juliane Léger AP-HP.Nord-Université de Paris, Hôpital Universitaire Robert Debré, Service d’Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes de la Croissance et du Développement, Paris, France

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Stephane Hatem Institute of Cardiology and Nutrition, Paris, France

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Michel Polak AP-HP.Université de Paris Centre, Hôpital Universitaire Necker Enfants Malades, Département d’Endocrinologie, Diabétologie et Gynécologie Pédiatrique, Paris, France; Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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Christine Poitou AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service de Nutrition, Centre du Syndrome de Prader-Willi et Autres Obésités Rares, Paris, France

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Philippe Touraine AP-HP. Sorbonne Université, Hôpital Universitaire Pitié Salpêtrière-Charles Foix, Service d’Endocrinologie et Médecine de la Reproduction, Centre de Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Pathologies Gynécologiques Rares, Paris, France

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involved, of the difficulties faced during transition by young adults with congenital adrenal hyperplasia, hypogonadotropic hypogonadism and growth hormone deficiency ( 14 ). The need for development of such a programme was reinforced by a second survey

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Lisette van Alewijk Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Kirsten Davidse Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Karlijn Pellikaan Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Judith van Eck Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Anita C S Hokken-Koelega Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands

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Theo C J Sas Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands

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Sabine Hannema Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Department of Paediatric Endocrinology, Leiden University Medical Centre, Leiden, the Netherlands

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Aart J van der Lely Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Laura C G de Graaff Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands

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pituitary hormone deficiencies ( n  = 7), Klinefelter syndrome ( n  = 6), 46, XY DSD ( n  = 6) and congenital adrenal hyperplasia ( n  = 5) were the most common (see Table 1 for details). Median age of participants was 17 years (IQR 17.0–18.0, range 15

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Valentina Guarnotta Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Silvia Lucchese Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Mariagrazia Irene Mineo Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Donatella Mangione Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Ostetricia e Ginecologia, Università di Palermo, Palermo, Italy

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Renato Venezia Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Ostetricia e Ginecologia, Università di Palermo, Palermo, Italy

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Piero Luigi Almasio Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Gastroenterologia ed Epatologia, Università di Palermo, Palermo, Italy

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Carla Giordano Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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) ( 1 , 2 ). Insulin resistance with total, visceral, and hepatic adiposity is thought to be a major driver of such early maturation ( 3 , 4 ). Non-classical congenital adrenal hyperplasia or heterozygous carriers of 21-hydroxylase deficiency can

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Britt J van Keulen Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Centers, location VUmc, Amsterdam, The Netherlands
Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Reproduction & Development Research Institute, de Boelelaan, Amsterdam, The Netherlands

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Michelle Romijn Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Centers, location VUmc, Amsterdam, The Netherlands
Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Reproduction & Development Research Institute, de Boelelaan, Amsterdam, The Netherlands

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Bibian van der Voorn Department of Pediatric Endocrinology, Sophia Kinderziekenhuis, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

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Marita de Waard Emma Children’s Hospital, Amsterdam University Medical Centers, locations AMC and VUmc, Amsterdam, The Netherlands

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Michaela F Hartmann Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig-University, Giessen, Germany

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Johannes B van Goudoever Emma Children’s Hospital, Amsterdam University Medical Centers, locations AMC and VUmc, Amsterdam, The Netherlands

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Stefan A Wudy Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig-University, Giessen, Germany

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Joost Rotteveel Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Centers, location VUmc, Amsterdam, The Netherlands

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Martijn J J Finken Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam University Medical Centers, location VUmc, Amsterdam, The Netherlands
Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Reproduction & Development Research Institute, de Boelelaan, Amsterdam, The Netherlands

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enrolled between March 30, 2012 and August 17, 2014, as previously described ( 16 ). Exclusion criteria were maternal intoxications during pregnancy, major congenital anomalies or birth defects, congenital infections, perinatal asphyxia, and use of cow

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Thomas Reinehr Pediatric Endocrinology, Diabetes and Nutrition Medicine, Vestische Children’s Hospital, University of Witten/Herdecke, Datteln, Germany

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Martin Carlsson Endocrine Care, Pfizer Inc, New York, New York, USA

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Dionisios Chrysis Division of Pediatric Endocrinology, University of Patras, Patras, Greece

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Cecilia Camacho-Hübner Endocrine Care, Pfizer Inc, New York, New York, USA

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children with congenital adrenal hyperplasia ( 7 ) and growth disorders such as normal short stature ( 4 , 8 , 9 ), constitutional delay of growth and puberty (CDGP) ( 9 , 10 , 11 ), and idiopathic short stature ( 12 ), it has been reported that adult

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Letícia Ribeiro Oliveira Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, Federal University of Uberlandia (UFU), Uberlandia, Minas Gerais, Brazil

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Carlos Alberto Longui Pediatric Endocrinology Unit, School of Medical Sciences, Irmandade da Santa Casa de Misericordia de Sao Paulo, Sao Paulo, Brazil

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Guilherme Guaragna-Filho Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil

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José Luiz Costa School of Pharmaceutical Sciences, UNICAMP, Campinas, Sao Paulo, Brazil
Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Rafael Lanaro Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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David Antônio Silva Laboratory of Physiology, Division of Clinical Pathology, Clinical Hospital, UNICAMP, Campinas, Sao Paulo, Brazil

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Maria Izabel Chiamolera Fleury Group, Sao Paulo, Brazil

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Maricilda Palandi de Mello Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetics Engineering (CBMEG), UNICAMP, Campinas, Sao Paulo, Brazil

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André Moreno Morcillo Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Andrea Trevas Maciel-Guerra Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Medical Genetics and Genomic Medicine, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Gil Guerra-Junior Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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with DSD ( 2 ). One of the most important challenge is the measurement of testosterone concentration ( 9 , 10 ), especially in the investigation of 46,XY DSD cases. DSD are congenital conditions in which chromosomal, gonadal or anatomical sex is

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Maki Igarashi Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan

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Tadayuki Ayabe Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan

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Kiwako Yamamoto-Hanada Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan

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Keiko Matsubara Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan

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Hatoko Sasaki Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan

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Mayako Saito-Abe Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan

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Miori Sato Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan

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Nathan Mise Department of Environmental and Preventive Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan

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Akihiko Ikegami Department of Environmental and Preventive Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan

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Masayuki Shimono Regional Center for Pilot Study of Japan Environment and Children’s Study, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka, Japan

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Reiko Suga Regional Center for Pilot Study of Japan Environment and Children’s Study, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka, Japan

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Shouichi Ohga Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan
Research Center for Environment and Developmental Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan

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Masafumi Sanefuji Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan
Research Center for Environment and Developmental Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan

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Masako Oda Department of Public Health, Faculty of Life Sciences, Kumamoto University, Chuo-ku, Kumamoto, Japan

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Hiroshi Mitsubuchi Department of Neonatology, Kumamoto University Hospital, Chuo-ku, Kumamoto, Japan

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Takehiro Michikawa Japan Environment and Children’s Study Programme Office, National Institute for Environmental Studies, Tsukuba, Ibaraki, Japan

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Shin Yamazaki Japan Environment and Children’s Study Programme Office, National Institute for Environmental Studies, Tsukuba, Ibaraki, Japan

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Shoji Nakayama Japan Environment and Children’s Study Programme Office, National Institute for Environmental Studies, Tsukuba, Ibaraki, Japan

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Yukihiro Ohya Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan

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Maki Fukami Medical Support Center for Japan Environmental and Children’s Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan

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ratios. These results indicate that in healthy children, female-dominant aromatase activation precedes adrenarche. This notion provides an answer to the previously raised question of why serum testosterone levels of a girl with congenital aromatase

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Min Yang Graduate School, Beijing University of Chinese Medicine, Beijing, China
Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China

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Xiangling Deng Graduate School, Beijing University of Chinese Medicine, Beijing, China
Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China

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Shunan Wang Graduate School, Beijing University of Chinese Medicine, Beijing, China
Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China

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Bo Zhou Graduate School, Beijing University of Chinese Medicine, Beijing, China
Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China

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Wenquan Niu Institute of Clinical Medical Sciences, China-Japan Friendship Hospital, Beijing, China

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Zhixin Zhang International Medical Services, China-Japan Friendship Hospital, Beijing, China
Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China

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in Tangshan were selected. Within each district, 5 kindergartens were selected, and 30 kindergartens were included finally. Children who are diagnosed to have major illnesses such as chronic kidney disease, hypothyroidism, or congenital heart disease

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