title: Bilateral testicular tumors in androgen insensitivity syndrome.
abstract: 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.
authors.affiliation: Department of Urology, Sagamihara National Hospital, Japan. fwnd2088@mb.nifty.ne.jp
authors.forename: N
authors.initials: N
authors.lastname: Sakai
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: T
authors.initials: T
authors.lastname: Asao
authors.forename: M
authors.initials: M
authors.lastname: Baba
authors.forename: M
authors.initials: M
authors.lastname: Yoshida
authors.forename: T
authors.initials: T
authors.lastname: Murayama
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D004273:DNA, Neoplasm / Q000032:analysis; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009919:Orchiectomy; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics; D018239:Seminoma / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D013736:Testicular Neoplasms / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D014057:Tomography, X-Ray Computed
chemical_list: D004273:DNA, Neoplasm; D011944:Receptors, Androgen