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Bilateral testicular tumors in androgen insensitivity syndrome
Author(s) -
Sakai Naoki,
Yamada Tetsuo,
Asao Takeshi,
Baba Masaya,
Yoshida Minoru,
Murayama Tetsuo
Publication year - 2000
Publication title -
international journal of urology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.172
H-Index - 67
eISSN - 1442-2042
pISSN - 0919-8172
DOI - 10.1046/j.1442-2042.2000.00215.x
Subject(s) - androgen insensitivity syndrome , medicine , exon , androgen receptor , complete androgen insensitivity syndrome , androgen , point mutation , seminoma , mutation , testicular cancer , endocrinology , cancer research , gene , pathology , prostate cancer , cancer , hormone , biology , genetics , chemotherapy
We report on a case of complete androgen insensitivity syndrome with bilateral testicular tumors and a point mutation in the androgen receptor gene. A bilateral gonadecotmy was performed and both of the resected tumors were histologically diagnosed as pure seminoma. Direct sequencing of amplified exons 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 replacement at codon 752. To our knowledge, this is the first reported case of androgen insensitivity syndrome with bilateral testicular tumors.