Bilateral testicular tumors in androgen insensitivity syndrome

We report on a case of complete androgen insensitivity syndrome with bilate ral testicular tumors and a point mutation in the androgen receptor gene. A bilateral gonadecotmy was performed and both of the resected tumors were h istologically diagnosed as pure seminoma. Direct sequencing of amplified ex ons E-G of. the androgen receptor. gene from the resected tumor identified a CGA to CAA substitution in exon E, resulting in arginine to glutamine rep lacement at codon 752. To our knowledge, this is the first reported case of androgen insensitivity syndrome with bilateral testicular tumors.