Phenotypic variation in a family with partial androgen insensitivity syndrome
M. Maes, P. A. Lee, R. D. Jeffs, C. Sultan and C. J. Migeon
A family with partial androgen insensitivity syndrome exhibited
considerable variation in phenotypic expression of their androgen
resistance. One subject died at 2 1/2 years of age of a Wilms' tumor. In
the two living members, one had a micropenis with otherwise normal
genitalia, while the other had a small phallus, perineoscrotal hypospadias,
bifid scrotum, and persistence of a vaginoutricular pouch. At puberty,
plasma androgens and serum gonadotropins increased to normal or elevated
values. However, despite adequate endogenous plasma testosterone levels and
testosterone therapy, these patients showed poor virilization and were
sterile. Studies of cultured sexual skin fibroblasts showed adequate 5
alpha-reductase activity and normal receptor affinity and capacity for
dihydrotestosterone. An X-linked mode of inheritance is postulated,
although autosomal dominance cannot be ruled out.
