A novel mutation of SRY gene identified in a 46,XY complete gonadal dysgenesis patient
10.3760/cma.j.issn.1000-6699.2011.07.012
- VernacularTitle:一例46,XY完全性性腺发育不良患者SRY基因新突变报道
- Author:
Manna ZHANG
;
Yuejun LIU
;
Shouyue SUN
;
Weiqiong GU
;
Jianming LIU
;
Guang NING
;
Xiaoying LI
- Publication Type:Journal Article
- Keywords:
Sex reversal;
Complete gonadal dysgenesis;
Swyer syndrome;
SRY gene;
Mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2011;27(7):586-588
- CountryChina
- Language:Chinese
-
Abstract:
The clinical and genetic characteristics in a patient with 46,XY complete gonadal dysgenesis was investigated. Clinical features and laboratory data were collected from the patient and the family. The exon of SRY gene was amplified by PCR and sequenced. The patient presented with primary amenorrhea, nonambiguous female external genitalia, slight breast development, and no axillary hair or pubic hair. The female internal reproductive organs consisted of uterus and streaks of ovarian tissue. Howerver, the chromosome karyotype was 46,XY. A missense mutation of A66T in SRY gene was identified, which was not previously reported. The novel SRY mutation caused the sex reversal in this 46,XY female patient.
