The effect of dihydrotestosterone deficiency on sexual development.
In the absence of 5a-reductase, dihydrotestosterone-dependent structures (prostate and external genitalia) fail to develop. Affected individuals have ambiguous genitalia, with a clitoral-like phallus and bifid scrotum. A blind vaginal pouch may be present, and testes may be found in the labia or in the inguinal canals. At puberty, limited development takes place, with some phallic enlargement and full testicular descent, but scrotal and urethral abnormalities remain.
