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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 of 46, XY female cases of sexual inversion, combined with the literature to explore the pathogenesis of reversal syndrome. Methods Cytogenetic karyotype analysis was performed on 8 patients with gender-specific dysplasia due to primary amenorrhea treated with cytogenetic karyotyping technique. Results The chromosomal karyotypes of 8 female patients were both 46 and XY, with a clinical diagnosis of 46 and XY females reversal syndrome. Conclusion The mutation or deletion of SRY gene is the main cause of reversal syndrome. The karyotype analysis of patients with sexual dysplasia is helpful for the definite diagnosis.