Androgen insensitivity in forty-nine patients: classification based on clinical and androgen receptor phenotypes.

Androgen receptor binding was studied in genital skin fibroblasts from 49 patients with androgen insensitivity syndrome (AIS) classified as complete (CAIS) or partial (PAIS) based on the clinical phenotype. The majority (64%) of CAIS and a minority (7%) of PAIS patients were receptor negative. Only 3 receptor-positive AIS cell strains of 30 studied failed to show an increase in specific receptor binding after prolonged androgen exposure in vitro. The gene coding for the androgen receptor in such patients appears intact.