46,XX男性性别逆转综合征(附一例报告)

46,XX male sex reversal syndrome:a case report

目的 探讨男性性别逆转综合征的表现及遗传学基础。 方法 对 1例 4 6 ,XX男性患者进行系统检查 ,包括血清性激素及促性腺激素和染色体检查 ,并选用Y染色体特异性序列标签位点 (STS)sY14引物行PCR检测男性性别决定基因SRY。 结果 患者表现男性第一、二性征 ,性腺发育不良伴性腺功能低下 ,染色体核型为 4 6 ,XX ,但带有SRY基因。 结论 SRY基因转位可引起 4 6 ,XX男性性别逆转综合征 ,但因缺乏Y染色体SRY以外的其他部分而表现为性腺发育不良及性腺功能低下。SRY基因在性别决定过程中起重要作用。

Objective To investigate the manifestations and genetic mechanisms of male sex reversal syndrome. Methods A 22 year old male patient with 46,XX karyotype was systemically examined and a Y specific sequence tagged site (STS),sY14,was chosen to detect sex determining region of Y (SRY) gene by polymerase chain reaction (PCR). Results This patient shows primary and secondary male sex characters while gonads are hypoplastic and malfunctional.The patent has 46,XX karyotype and SRY gene.Therefore,the patient is diagnosed as 46,XX male sex reversal syndrome. Conclusions Translocation of SRY can bring about 46,XX male sex reversal syndrome,whereas gonads of the patients are hypoplastic and malfunctional because of the absence of other genes on Y chromosome.SRY gene plays an important role in sex determination.