Male Pseudohermaphroditism With Partial Androgen Insensitivity

Abstract
Androgen insensitivity was demonstrated in two male siblings with partial masculinization of the external genitalia. They had a previously undescribed defect characterized postpubertally by high plasma testosterone and luteinizing hormone concentrations with low serum folliclestimulating hormone levels. Studies in skin fibroblasts showed normal androgen receptor affinity and capacity for 5α-dihydrotestosterone (DHT), normal nuclear retention of the receptor-DHT complex, and normal conversion of testosterone to DHT.