Study on a novel androgen receptor gene mutation causing androgen insensitivity syndrome
10.3760/cma.j.issn.1000-6699.2009.01.017
- VernacularTitle:雄激素受体基因新突变致雄激素不敏感综合征
- Author:
Manna ZHANG
;
Huijie ZHANG
;
Jun YANG
;
Liqun GU
;
Jianmin LIU
;
Weiqing WANG
;
Guang NING
;
Xiaoying LI
- Publication Type:Journal Article
- Keywords:
Androgen insensitivity syndrome;
Androgen receptor;
Gene mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2009;25(1):58-61
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical and genetic characteristics in two patients with androgen insensitivity syndrome. Methods Clinical features and laboratory data were collected from the patients and their families. All exons of the androgen receptor gene were amplified by PCR and PCR products were sequenced. Results Patient 1 presented with unambiguous female external genitalia, unilateral gynecomastia and primary amenorrhea. He did not have axillary hairs or pubic hairs. Patient 2 presented with undervirilization including scanty body hairs, gynecomastia and hypospadias. A missense mutation of
