46,XX男性/46,XY女性综合征病例分析

目的报告2例性反转综合征病例,探讨性反转综合征的遗传学机制及性别决定基因在人类性腺分化和性别发育中的作用。方法细胞遗传学染色体核型分析以及PCR技术检测外周血SRY基因。结果病例1患者的外周血染色体核型为46,XX,SRY( )。诊断为46,XX男性性反转综合征;病例2的患者外周血染色体核型为46,XY,SRY( )。诊断为46,XY女性性反转综合征。结论细胞遗传学核型分析结合PCR技术检测SRY基因,是诊断性别发育异常患者的重要手段。SRY基因检测比Y染色体更能预示睾丸组织的存在。除SRY基因外,还存在多个参与性别决定和分化的基因,性分化异常表现高度遗传异常性。

Analysis of the cases of the 46, XX male sex-reversal and 46XY female sex-reversal syndrome

Objective: To report two cases of sex-reversal syndrome and to explore genetic mechanism of it as well as the role of SRY gene in human gonad differentiation and sexual development.Methods: To detect the SRY gene of peripheral blood in the way of the karyotype analysis technique of cyto genetic and polymerase chain reaction(PCR).Results: The karyotype of the case one which was diagnosed as 46,XX male sex-reversal syndrome is 46,XX,SRY( ),while that of the case two,diagnosed as 46,XY female sex-reversal syndrome,is 46,XY,SRY( ).Conclusion: Detection of SRY gene is more sensitive and specific than that of Y-chromosome in checking the presence of testicular tissue,which is an important measure to diagnose the patient of abnormal sex development.The abnormality of gonad is based on chromosome karyotype and SRY gene of gonad tissue.There exists more other genes involving sexual decision and differentiation in addition to SRY gene.Sexual differential abnormality presents genetic heterogeneity in high degree.