DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome.

OBJECTIVE

Androgen insensitivity syndrome is an X-linked disorder of sexual differentiation resulting from abnormalities of the androgen receptor gene. In this study, we analyzed the androgen receptor gene in 2 cases with complete androgen insensitivity syndrome (CAIS).

METHODS

DNAs were isolated from patients with CAIS, and the androgen receptor gene was amplified by a polymerase chain reaction. Sequence analysis of the androgen receptor gene was performed.

RESULTS

In Patient 1, one substitutional mutation [glutamine (CAA) to arginine (CGA) at position 194] was identified in exon A, and the premature termination of the androgen receptor gene was also demonstrated due to the deletion of one nucleotide at the codon in exon C (position 597). In Patient 2, one substitutional mutation [arginine (CGC) to cysteine (TGC) at position 855] in exon G was identified. This position was located in the hormone-binding domain and appeared to be a hot spot of mutations because the mutations at the same position have been reported before in several unrelated cases.

CONCLUSION

The results of this study suggest that these abnormalities might be related to the pathogenesis of complete androgen insensitivity syndrome.