摘要
性反转综合征是染色体性别与性腺性别不一致的病理现象,包括46,XX男性和46,XY女性。性别分化是多基因参与的复杂过程,除SRY(Y染色体性别决定基因)基因外,SOX9、WNT4、DAX1、SF1、WT1、DMRT1、SOX3等基因均参与其过程。儿童性反转综合征患者多因外阴发育异常就诊,成年性反转综合征患者多因闭经、无精子、不育、女性化乳房等就诊。目前,性反转综合征的发病机制仍有些不明确,本文我们对SRY阴性46,XX男性性反转综合征的遗传学研究进展进行了综述。
Sex reversal syndrome is characterized by genetic sex and gonadal gender inconsistencies,including 46,XX male and 46,XY female.Sex differentiation is a complex physiological procedure,involving multiple genes such as SRY,SOX9,WNT4,DAX1,SF1,WT1,DMRT1 and SOX3.Most adolescent patients are treated for ambiguous genitalia and adult ones are treated with amenorrhea,no sperm,infertility,and gynecomastia.At present,the pathogenesis of sexual inversion syndrome is still not clear,the progress in genetic research of SRY negative 46,XX male sexual reversal syndrome is reviewed in this paper.
作者
张兰雪
赵向宇
李琳
ZHANG Lan-xue;ZHAO Xiang-yu;LI Lin(Institute of Heredity,Linyi People's Hospital,Shandong Province,276003)
出处
《中国优生与遗传杂志》
2019年第1期125-127,共3页
Chinese Journal of Birth Health & Heredity
基金
山东省重点研发计划(2017GSF218072)
山东省自然科学基金联合专项(ZR2016HL07)
山东省自然科学基金(ZR2016HP37)
