Background: Disorders of sex development (DSD), formerly termed ambiguous genitalia, constitute a complex major social and medical emergency.
Design and settings: A retrospective hospital-based study was conducted at King Khalid university hospital (KKUH), Riyadh, Saudi Arabia, during the period from January 1990 to June 2016. Materials and methods: All the 127 patients evaluated for disorders of sex development (DSD) constituted the subjects of the study. Medical records wereretrospectively reviewed for age, sex, relevant family and social history, pregnancy, clinical manifestations and results of all radiological, laboratory and ancillary investigations.
Results: One hundred and twenty seven children, aged zero to thirteen years of age were evaluated for disorders of sex development (DSD). During the period under review, sixty- nine (54.3%) were female genetic sex (46 XX). The majority (97.3%) were proven to have variable forms of congenital adrenal hyperplasia (CAH). Fifty-eight (45.7%)Patients were male genetic sex (46 XY). A diversity of causes were noted, with androgen insensitivity syndrome, and ano-rectal anomalies, 5-
α-reductase deficiency, congenital adrenal hyperplasia, due to 3-β-hydroxysteroid dehydrogenase deficiency, were among the commonest.
Conclusion: Disorders in sex development (DSD) are not rare in our community. A
multidisciplinary team approach is mandatory for successful management.
