162例男性无精子症患者的细胞遗传学和Y染色体微缺失分析

Analysis of cytogenetics and Y chromosome microdeletion in 162 male patients with azoospermia

目的探讨男性无精子症患者的外周血染色体核型和Y染色体微缺失与生精障碍的关系。方法对2014年1月以来在本院门诊的162例原发性无精子症患者行外周血染色体核型分析和Y染色体微缺失检测。结果在162例无精子症患者中检出染色体异常核型22例,占13.59%。异常核型可主要归为下列4种类型:(1)47,XXY共8例,占36.36%;(2)次缢痕增加(包括1号、16号染色体)共2例,占9.09%;(3)9号染色体臂间倒位共4例,占18.18%,(4)Y染色体多态性8例,占36.36%。162例无精症患者进行AZF微缺失检查,发现有26例存在微缺失,检出率16.05%,其中最常见的为AZFc完全缺失,占无精子症患者的7.40%。结论染色体核型异常和Y染色体微缺失是导致与男性无精的重要原因。

Objective：To investigate the relationship between chromosome karyotype and Y chromosome microdeletion and spermatogenesis in peripheral blood of male patients with azoospermia. Methods：Chromosomal karyotype analysis and Y chromosome microdeletion were performed in 162 patients with primary azoospermia in our hospital since January 2014. Results：Twenty-two cases of chromosomal abnormalities were detected in 162 patients with azoospermia,accounting for 13.59%. Abnormal karyotype can be classified into the following four types：（1）47,XXY 8 cases,accounting for 36.36%;（2）secondary constriction increased（including No. 1,No.16 chromosome）in 2 cases,accounting for 9.09%;（3）There were 4 cases（18.18%）,（4）Y chromosome polymorphism in 8 cases（36.36%）. 162 cases of azoospermia patients with AZF microdeletion examination,found that there are 26 cases of microdeletions,the detection rate of 16.05%,of which the most common deletion of AZFc completely,accounting for 7.40% of azoospermia patients. Conclusion：Chromosome karyotype abnormalities and Y chromosome microdeletions are important causes of infertility with men.