46,XX男性性反转综合征4例报道  

The clinical characteristics of 46,XX male sex reversal syndrome

作　　者：沈红霞[1] 尹坤[1] 

机构地区：[1]云南省大理学院附属医院检验科,大理671000

出　　处：《中国男科学杂志》2016年第4期46-48,共3页Chinese Journal of Andrology

摘　　要：目的报道4例46,XX男性性反转病例,结合相关文献探讨性反转综合征的临床特点。方法对其外周血淋巴细胞进行核型分析。结果 4例患者染色体核型均为46,XX,结合临床、B超、性激素检查诊断为46,XX男性性反转综合征。结论对男性生殖器发育异常、睾丸偏小、无精子并性激素异常等患者,有必要进行染色体检查及SRY基因检测,有助于明确诊断。Objective To discuss clinical characteristics and pathogenesis of sex reversal syndrome by 4 case reports of 46, XX male sex reversal patients and relevant literature review. Methods Peripheral blood lymphocyte karyotype of 4 patients were comparatively analyzed. Results The chromosome karyotype for all 4 patients was 46, XX. Combined with their clinical, ultrasound, sex hormone level, they were all diagnosed as 46, XX male sex reversal syndrome. Conclusion For patients with male genital dysplasia, small testes, aspermia and abnormal sex hormones level, it is necessary to check the chromosome and SRY gene, which is helpful for diagnosis.

关 键 词：性逆转 性腺 不育 男性 核型分析 

分 类 号：R698.2[医药卫生—泌尿科学]