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Qualitative receptor defects in families with androgen resistance: failure of stabilization of the fibroblast cytosol androgen receptor.

We describe a new method for detecting the presence of a qualitatively abnormal androgen receptor in skin fibroblasts cultured from patients with androgen resistance. Preparation of normal fibroblast cytosol in the presence of sodium molybdate results in stabilization of a 7–8S dihydrotestosterone-receptor complex on sucrose density gradients. Patients with testicular feminization previously identified as having a qualitatively abnormal androgen receptor, as determined by thermolability of monolayer binding, were shown to have failure of stabilization of the cytosol receptor by molybdate. In light of this, we designed a study to see whether this technique might identify previously unrecognized instances of a qualitatively abnormal androgen receptor. Comparison of the thermolability of monolayer binding and molybdate stabilization of cytosol receptor was thus undertaken in 35 families with androgen resistance due to putative disorders of the androgen receptor. The patients included individuals from 15 fami...