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Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA
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genetically enriched disease with ~37 genes being implicated in its pathophysiology ( 2 , 3 ). The genetic basis of disorders of sex development has been previously studied with a prevalence of genetic changes ~45% ( 4 , 5 ), whereas in the genetically
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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 Paediatrics, 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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-Albright syndrome 1 DAX1 gene mutation 1 Toxic thyroid adenoma 1 Kallmann syndrome 1 Prolactinoma 4 Multiple endocrine neoplasia syndrome type 2A 4 Ovotesticular disorder of sex development 1 Childhood
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surgical and hormonal therapy and psychological and social support in adolescents and adults with different forms of disorders of sex development (DSD), aiming to provide the basis for improvements in evidence-based recommendations for care. Ethical
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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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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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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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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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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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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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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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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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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Nordenström A Houk CP Ahmed SF Auchus R Baratz A Baratz Dalke K Liao LM Lin-Su K Looijenga LHJ Global disorders of sex development update since 2006: perceptions, approach and care . Hormone Research in Paediatrics 2016 85 158 – 180
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symptoms of CAH. In another study, Nygren et al. ( 30 ) investigated the voice self-assessment in patients with disorder of sex development, including 207 females affected by all subtypes of CAH. Among the group of women affected by this endocrinopathy
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>3.0.CO;2-O ) 14 Bertelloni S Russo G & Baroncelli GI . Human chorionic gonadotropin test: old uncertainties, new perspectives, and value in 46,XY disorders of sex development . Sexual Development 2018 12 41 – 49 . ( https://doi.org/10
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of patients with disorders of sex development . Journal of Urology 2010 184 1122 – 1127 . ( https://doi.org/10.1016/j.juro.2010.05.022 ) 10.1016/j.juro.2010.05.022 16 Traish A Kim N. The physiological role of androgens in penile erection
UPMC Univ, Paris, France
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Université Paris Descartes, Paris, France
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UPMC Univ, Paris, France
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Metabolism 2014 99 E1547 – E1555 . ( doi:10.1210/jc.2014-1486 ) 10.1210/jc.2014-1486) 21 Johannsen TH Ripa CPL Mortensen EL Main KM. Quality of life in 70 women with disorders of sex development . European Journal of Endocrinology
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St.Anna Kinderspital, Medical University of Vienna, Vienna, Austria
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Rare Diseases 2017 12 56. ( https://doi.org/10.1186/s13023-017-0603-7 ) 29 Ali SR Lucas-Herald A Bryce J Ahmed SF The role of international databases in understanding the aetiology and consequences of differences/disorders of sex
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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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,XY disorders of sex development . Journal of Clinical Endocrinology and Metabolism 2016 101 4532 – 4540 . ( https://doi.org/10.1210/jc.2016-2248 ) 44 Tuke MA Ruth KS Wood AR Beaumont RN Tyrrell J Jones SE Yaghootkar H Turner