Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma

被引:6
|
作者
Ko, HM
Chung, JH
Lee, JH
Jung, IS
Choi, IS
Juhng, SW
Choi, C
机构
[1] Chonnam Natl Univ, Sch Med, Dept Pathol, Res Inst Med Sci, Kwangju 501746, South Korea
[2] Kwangju Vet Hosp, Dept Anat Pathol, Kwangju, South Korea
关键词
androgen receptor gene mutation; complete androgen insensitivity syndrome; Sertoli cell adenoma;
D O I
10.1097/00004347-200104000-00014
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
We report a case of Sertoli cell adenoma in complete androgen insensitivity syndrome (CAIS) in a 22-year-old woman. Polymerase chain reaction-single strand conformation polymorphism and DNA sequencing revealed a single nucleotide substitution on exon 7 of the human androgen receptor (hAR) gene, resulting in a change of CGA (arginine) to CAA (glutamine) in codon 831.
引用
收藏
页码:196 / 199
页数:4
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