一例46，XY完全性性腺发育不良患者SRY基因新突变报道  

A novel mutation of SRY gene identified in a 46, XY complete gonadal dysgenesis patient

作　　者：张曼娜[1] 刘明隽[1] 孙首悦[1] 顾卫琼[1] 刘建民[1] 宁光[1] 李小英[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院内分泌代谢病科 上海市内分泌代谢病临床医学中心 上海市内分泌代谢病研究所,200025

出　　处：《中华内分泌代谢杂志》2011年第7期586-588,共3页Chinese Journal of Endocrinology and Metabolism

基　　金：基金项目：上海市科委基金资助项目（09DJ1400402）

摘　　要：分析1例46,XY完全性性腺发育不良患者及其家系的临床及分子遗传学.收集患者的临床资料,并提取患者及其家系成员的外周血单个核细胞基因组DNA,应用PCR扩增SRY基因并直接测序,明确患者及其父母的基因突变.患者临床表现为原发性闭经、女性外生殖器、轻度乳房发育、阴毛腋毛缺如.内生殖器为子宫和条索状卵巢组织.染色体核型为46,XY.基因测序检测到患者SRY基因第66位氨基酸由丙氨酸突变为丝氨酸（A66T）,并证实为一新的突变.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.

关 键 词：性反转 完全性性腺发育不良 Swyer综合征 SRY基因 突变 

分 类 号：R588[医药卫生—内分泌]