Background: Disorders of sex development (DSD), formerly known as ambiguous genitalia, is a birth defect where the outer genitalia do not have the typical appearance of either a boy or a girl. The issue is so sensitive and poses a major psychological impact in the family. Design and setting: A retrospective hospital based study was conducted at King Khalid University Hospital (KKUH) Riyadh, Saudi Arabia during the period January 1989 and December 2014, to define the magnitude of the problem and identify the various aetiological. Methods: Medical records of children with the diagnosis of disorders of sex development were retrospectively reviewed. Data includes age, clinical presentation, given sex, chromosomal sex, family and psychological history and results of relevant laboratory and radiological investigations. Results: During the period under review, a total of 119 patients were diagnosed with variable aetiologies of ambiguous genitalia. Three patients who were diagnosed with 5-alpha reductase deficiency and initially wrongly assigned a female sex accepted sex re-assignment, while three of the 25 patients with the diagnosis of congenital adrenal hyperplasia, who were initially wrongly assigned a male sex refused sex assignments. Psycho-social factors, mainly influence of grandparents, the superior role of the male sex in the community and inappropriate counselling were among the comment. Conclusion: The sex-reassignment is not that uncommon. A multidisciplinary team approach guided by the Islamic guidelines should be implemented.
