Carrier detection in the testicular feminisation syndrome: deficient 5 alpha-dihydrotestosterone binding in cultured skin fibroblasts from the mothers of patients with complete androgen insensitivity.

Specific binding of 5 alpha-dihydrotestosterone (androgen receptor activity) could not be detected in cultured genital skin fibroblasts (GSF) from two patients with complete androgen insensitivity (CAI). In GSF from the mother of one patient, androgen receptor activity (8.5 fmol/mg cell protein) was reduced in comparison with controls (34.0 +/- 10.1 (SD) fmol/mg protein n = 15). These results favour X linked inheritance of CAI and X inactivation at the androgen receptor locus. Androgen receptors were not detected in GSF of the second mother. It appears that female carriers of CAI could be detected by decreased 5 alpha-dihydrotestosterone binding in GSF. Androgen receptor activity was also undetectable in non-genital skin fibroblasts (NGSF) from the second mother and two further CAI patients. However, in 1 in 10 control NGSF lines androgen receptor activity was at the lower limit of assay sensitivity (1 to 2 fmol/mg protein) demonstrating that NGSF may not be reliable for family studies of androgen receptor deficiency.