46,XY女性性反转患者细胞遗传学检测

Analysis on cytogenetics of patients with 46,XY sex-reversal syndrome

目的报告8例46,XY女性性反转病例,结合相关文献探讨性反转综合征的发病机制。方法运用细胞遗传学核型分析技术对8例社会性别为女性、因原发性闭经就诊的性发育异常患者进行染色体核型分析。结果 8例女性患者染色体核型均为46,XY,结合临床诊断为46,XY女性性反转综合征。结论 SRY基因突变或缺失是导致性反转综合征的主要病因,对性发育异常患者进行核型分析有利于明确诊断。

Objective： To report eight cases and to explore the mechanism of 46, XY female sex- reversal syndrome. Methods： 8 patients with primary amenorrhea and sexual abnormality were analized with the karyotype analysis technique of cytogenetic. Results： Karyotype of 8 cases were 46, XY, diagnosed as 46, XY female sex - reversal syndrome. Conclusions ： The deletion or mutation of SRY gene is the main of sex reversal syndrome. The detection of karyotype for the patient with sexual abnormality can help us to diagnosis.