Journal of pediatric endocrinology & metabolism : JPEM · 2010
Disorders of sexual development: an overview of 18 years experience in the pediatric Endocrinology Department of Ankara University.
СтатьяОбзорНазвание и аннотация: Перевод в очереди
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Ocal G, Berberoğlu M, Siklar Z, Bilir P, Uslu R, Yağmurlu A, Tükün A, Akar N, Soygür T, Gültan S, Gedik V Tonyukuk
Аннотация
INTRODUCTION: Disorders of sexual development (DSD) occur when the appearance of the internal and/or external genitalia is at variance with normal development for either sex. We reviewed the characteristics of patients with DSD.
PATIENTS: Two hundred and eight children aged from newborn to 19 years with DSD from 1990 to 2008.
RESULTS: 46,XY DSD (52.4%) was more common than 46,XX DSD (34.6%) and gonadal differentiation disorders (12.99%). Thirty-six (33.02%) patients were diagnosed with androgen resistance syndrome, 41 (37.61%) had 5alpha-reductase deficiency, 23 (21.10%) had testosterone synthesis disorders. Congenital adrenal hyperplasia was the most frequent underlying cause of 46,XX DSD.
CONCLUSION: There are many difficult aspects in the diagnosis and management of DSD. Gender assessment teams of endocrine centers need a multidisciplinary approach for the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of these patients.
PATIENTS: Two hundred and eight children aged from newborn to 19 years with DSD from 1990 to 2008.
RESULTS: 46,XY DSD (52.4%) was more common than 46,XX DSD (34.6%) and gonadal differentiation disorders (12.99%). Thirty-six (33.02%) patients were diagnosed with androgen resistance syndrome, 41 (37.61%) had 5alpha-reductase deficiency, 23 (21.10%) had testosterone synthesis disorders. Congenital adrenal hyperplasia was the most frequent underlying cause of 46,XX DSD.
CONCLUSION: There are many difficult aspects in the diagnosis and management of DSD. Gender assessment teams of endocrine centers need a multidisciplinary approach for the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of these patients.