Disorders of Sex Development

Abstract

Genetic sex is determined at the time of fertilization, but the steps of sexual differentiation take place over 14 weeks of embryonic and fetal development. An error or fault in this process may result in a disorder or difference of sex development (DSD), defined as a discrepancy in the genetic, gonadal, or genital makeup of an individual. This chapter reviews (1) normal fetal sexual differentiation; (2) an approach to the recognition and diagnosis of neonates who may have a DSD; and (3) the classification, clinical features, and general management principles of DSDs, with the focus on perinatal issues.