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St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria
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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
Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Institute of Medical Statistics and Informatics, Belgrade, Serbia
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University Children’s Clinic, Belgrade, Serbia
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University Children’s Clinic, Belgrade, Serbia
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Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia
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Mother and Child Health Care Institute of Serbia ‘Dr Vukan Cupic’, Belgrade, Serbia
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Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia
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Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Institute of Pathology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia
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Clinic for Neurosurgery, University Clinical Center of Serbia, Belgrade, Serbia
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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
AP-HP.Nord-Université de Paris, Hôpital Universitaire Robert Debré, Unité d’Épidémiologie Clinique, Inserm, 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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Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands
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Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands
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Department of Paediatric Endocrinology, Leiden University Medical Centre, Leiden, the Netherlands
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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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) ( 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
Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Reproduction & Development Research Institute, de Boelelaan, Amsterdam, The Netherlands
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Department of Pediatrics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Reproduction & Development Research Institute, de Boelelaan, Amsterdam, The Netherlands
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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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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
Department of Pediatrics, Federal University of Uberlandia (UFU), Uberlandia, Minas Gerais, Brazil
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Department of Pediatrics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil
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Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil
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Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetics Engineering (CBMEG), UNICAMP, Campinas, Sao Paulo, Brazil
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Department of Medical Genetics and Genomic Medicine, FCM, UNICAMP, Campinas, Sao Paulo, Brazil
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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
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan
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Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan
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Research Center for Environment and Developmental Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan
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Research Center for Environment and Developmental Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan
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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
Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China
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Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China
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Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China
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Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China
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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