Incomplete Androgen Insensitivity Associated with a Thermolabile Androgen Receptor

Abstract

One infant and a cousin with incomplete androgen insensitivity syndrome were reported. The familial pedigree showed that the disorder was inherited in three generations in X-linked recessive fashion. An androgen binding study of cultured genital skin fibroblast from patients showed normal maximum binding capacity and a normal apparent dissociation constant. Heat stability assay showed binding decreased to less than 30% at 41°C compared with the amount at 30°C, indicating that the androgen receptor was thermolabile.