Evaluation of the infant who has ambiguous genitalia, and principles of operative management.

Infants and children with ambiguous genitalia pose challenging diagnostic and therapeutic issues for the clinician. Success depends on rapid and precise diagnosis, appropriate gender assignment, proper medical therapy, and meticulous surgical technique. A well-trained multispecialty clinical team is essential. The major disease categories include chromosomal abnormalities, excessive androgen syndromes, and deficient androgen syndromes. The specific diseases involved are described in this article, as well as the diagnostic and therapeutic considerations for each.