Probing genomic deoxyribonucleic acid for gene rearrangement in 14 patients with androgen insensitivity syndrome

Androgen insensitivity appears to involve mutations in the X-linked androgen receptor (AR) gene in genetic males. In this study; 14 patients with androgen insensitivity syndrome (unrelated patients [n = 6]; related patients [n = 8]) were studied. Ten patients had complete and 4 had partial insensitivity to androgens. Deoxyribonucleic acid samples from controls and study subjects were examined with probes specific for the AR gene domains (hAR1, hAR2, hAR3). In one subject with complete androgen insensitivity syndrome, a reduction in size of the 2.4 kilobase band hybridizing to hAR1 was noted. Southern blot analysis of these subjects, however, did not detect deletions or gene rearrangement. These results suggest that deletions detectable by Southern method are infrequent mutants of the AR gene in patients with androgen insensitivity syndrome.