Pseudovaginal perineoscrotal hypospadias: genetic heterogeneity.

Defects in either the production or the action of androgenic steroids have been demonstrated to cause pseudovaginal perineoscrotal hypospadias, a syndrome of male hermaphoditism. The ability to make a rapid, specific biochemical diagnosis in an infant with this syndrome, and thus to predict the infant's response to androgens, could be a valuable aid in the assignment of sex to an infant with ambiguous external genitalia.