Disorders of sex development comprise a heterogeneous group of congenital conditions associated with atypical development of internal and external genitalia. There may be associated genetic variations and hormonal derangement. The affected children may present at birth with genital ambiguity or may present in later childhood or during adolescence. Disorders of sex development can be classified into several categories, including chromosomal, gonadal, and anatomic abnormalities. Controversy exists regarding the management of such children with social, ethical and legal issues that often influence the time and type of surgical procedures. Most importantly, patient management needs to be individualized, particularly for decisions related to sex of rearing, surgical interventions, hormone treatment, and potential for fertility preservation.

Keywords: Ambiguous genitalia; intersex disorders; CAH; genitoplasty.