Differential diagnosis and therapeutic options for ambiguous genitalia

Sexual differentiation is a multistep process in which genetic information is translated into phenotype. Disorders in any of these steps can result in ambiguity of the genitalia. The differential diagnosis requires a systematic approach, with determination of the genetic sex (karyotype), careful description of the internal genital structures, and determination of the hormonal milieu. Confirmation of the diagnosis with molecular and biologic studies is now possible in many disorders of intersex. This article provides a review of the differential diagnosis and therapeutic options of disorders causing ambiguous genitalia, with emphasis on new developments in the field.