328例生精异常的不育患者及4例国内外首报异常核型分析

Karyotype analysis of 328 cases with dysspermia and a report of 4 cases with rare abnormal chromosome karyotype

目的：对少弱精子症、无精子症及死精子症的男性不育患者进行染色体分析，探讨染色体与生精异常之间的关系，及造成男性不育的机制。方法对328例少弱精子症、无精子症与死精子症的男性不育患者进行外周血淋巴细胞培养，常规G显带，计算机软件进行核型分析，计数30个核型，观察5个核型，异常者加倍分析。结果在328例生精异常男性不育患者中，发现染色体异常核型132例，异常检出率为40.2%，其中性染色体异常75例，占异常核型的56.8%；常染色体结构异常17例，占异常核型的12.9%；染色体多态现象40例，占异常核型的30.3%。经专家鉴定，有4例异常核型为国内外首次报道。结论染色体异常是引起男性生精异常的重要原因之一，在进行少弱精子症、无精子症或死精子症的临床诊断时，遗传因素不可忽视，这为确定是否有治疗价值提供重要依据。首报异常核型与临床资料的分析，为进一步研究男性生精异常及不育提供依据。

Objective To investigate the relationship between chromosome karyotype and male infertility of oligoasthenospermia, azoospermia, necrozoospermia, and explore the cause of male infertility. Methods Lymphocytes in peripheral blood from 328 male infertility with oligoasthenospermia, azoospermia or necrozoospermia were collected and cultured routinely and their chromosomes were stained by G banding.the karyotypes were analyzed by computer software. Results In the 328 cases of male infertility with dysspermia, 132 patients of them （40.2%） had abnormal karyotypeincluding 75sex chromosomal abnormality（56.8%）, 17 autosomal structure abnormalities（12.9%）, and 40 chromosomal polymorphism（30.3%）. 4 rare karyotypes were first reported. Conclusion Chromosome abnormality was one of the important factors for male with dysspermia, so it is very essential to perform the genetic analysis for clinical diagnosis of oligoasthenospermia, azoospermia and necrozoospermia, as well as determining treatment methods. First reported karyotypes and clinical data provide the basis for better understanding dysspermia and male infertility.