1 Department of Pediatrics, Division of Endocrinology, Baylor College of Medicine, Houston, Texas
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 5
-dihydrotestosterone (DHT), normal nuclear retention of the receptor-DHT complex, and normal conversion of testosterone to DHT.