Disorders of Sexual Development: An Overview of 18 Years Experience in the Pediatric Endocrinology Department of Ankara University

• Published in: Journal of Pediatric Endocrinology and Metabolism Vol. 23; no. 11; pp. 1123 - 1132
• Main Authors: cal, G., Berberolu, M., iklar, Z., Bilir, P., Uslu, R., Yamurlu, A., Tkn, A., Akar, N., Soygr, T., Gltan, S., Gedik, V. Tonyukuk
• Format: Journal Article
• Language: English
• Published: Germany Walter de Gruyter GmbH & Co. KG 01.11.2010
• Subjects: 46, XX Disorders of Sex Development - classification; 46, XX Disorders of Sex Development - diagnosis; 46, XX Disorders of Sex Development - therapy; Adolescent; ambiguous genitalia; Child; Child, Preschool; Disorder of Sex Development, 46,XY - classification; Disorder of Sex Development, 46,XY - diagnosis; Disorder of Sex Development, 46,XY - therapy; disorders of sex development; Disorders of Sex Development - classification; Disorders of Sex Development - diagnosis; Disorders of Sex Development - therapy; Female; Gender Identity; Humans; Infant; Infant, Newborn; Male; sex of rearing; Turkey
• ISSN: 0334-018X; 2191-0251
• DOI: 10.1515/jpem.2010.177

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 5-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.