性逆转综合征研究进展  

Research Progress of Sex Reversal Syndrome

作　　者：赵保静[1] 丛林[1] 

机构地区：[1]安徽医科大学第一附属医院妇产科产前诊断中心,合肥230022

出　　处：《国际生殖健康／计划生育杂志》2011年第3期247-250,共4页Journal of International Reproductive Health/Family Planning

摘　　要：性逆转综合征是一种性分化异常疾病。患者染色体核型和性表型相反,包括46,XX男性和46,XY女性2型。其发生机制包括Yp-Xp末端易位、性染色体和常染色体易位、存在未能检出的XX/XY嵌合、SOX9基因过度表达或缺失、参与性别决定的其他基因或分子发生突变等。临床表现有很大的异质性,46,XX男性多因婚后不育就诊,46,XY女性常因原发性闭经就诊。需尽早做出正确诊断,可利用产前诊断技术避免此类患儿的出生,目前治疗手段包括手术、药物及心理干预等。Sex reversal syndrome is a disorder of sexual differentiation.Karyotype and phenotype are oppositive,including the 46,XX males and 46,XY female.The possible mechanisms include the translocation of Yp-Xp end,the translocation of chromosome and autosomal,the undetected XX/XY chimeric,over-expression or deletion of SOX9 gene,and mutation of other genes or molecules involved in sex determination.There are great clinical heterogeneity.Infertility after marriage may be the main cause for a 46,XX male to see doctor.46,XY female often see a doctor because of primary amenorrhea.Diagnosis should be done as early as possible.Prenatal diagnostic techniques can be used to avoid the birth of those sick children.Therapy for this syndrome includes surgery,drugs and psychological intervention.

关 键 词：性分化 性逆转 性腺 染色体 性别决定(遗传学) 

分 类 号：R588[医药卫生—内分泌]