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.