性反转综合征的临床特征及遗传学研究进展  

Clinical characters and advance in genetic study on sex reversal syndrome

作　　者：文雪[1] 张元珍[1] 

机构地区：[1]武汉大学中南医院妇产科发育源性疾病湖北省重点实验室,湖北武汉430071

出　　处：《中国优生与遗传杂志》2017年第3期121-123,共3页Chinese Journal of Birth Health & Heredity

摘　　要：性反转综合征(sex reversal syndrome,SRS)是一类性别发育异常的遗传性疾病,其主要特征为染色体性别与性腺性别不相符,包括46,XX男性性反转和46,XY女性性反转两型。SRS的临床表现各异,发生机制具有多样性,涉及多种基因,是生殖医学的难题之一,也是关乎患者终生幸福的重要问题之一。Sex reversal syndrome （ SRS ） is a kind of disease caused by the abnormality of sex development and characterized by the discrepancy between chromosomal and gonadal sex, including 46,XX male sex reversal and 46,XY female sex reversal. SRS is a conundrum of Reproductive Medicine due to its heterogenicity of manifestation and multiplicity of pathogenesis. Recent studies have shown that multiple genes were involved in pathogenesis of SRS. These studies can provide us new references for the basic research and clinical practice of SRS in future.

关 键 词：性反转综合征 性别分化 基因调节 

分 类 号：R596[医药卫生—内科学] R440[医药卫生—临床医学]