Androgen insensitivity syndrome: Gonadal androgen receptor activity

To determine whether abnormalities of the androgen receptor previously observed in skin fibroblasts from patients with androgen insensitivity syndrome also occur in the gonads of affected individuals, androgen receptor activity in the gonads of a patient with testicular feminization syndrome was investigated. Using conditions for optimal recovery of androgen receptor from human testes established by previous studies, we detected the presence of a high-affinity (dissociation constant = 3.2 × 10^-10 mol/L), low-capacity (4.2 × 10^-12 mol/mg DNA), androgen-binding protein when tritium-labeled R1881 was incubated at 4° C with nuclear extracts from the gonads of control patients or from a patient with testicular feminization syndrome but not when incubated at 37° C. Thus this patient has an androgen receptor with a temperature lability similar to that of receptors from normal persons.