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目的从遗传学角度分析男性生精障碍的病因,为临床提供治疗和遗传咨询的依据。方法对91例无精子症患者和42例严重少精子症患者,采用外周血染色体核型分析和Y染色体AZF区域微缺失联合检测。结果91例原发性无精子症患者中,染色体数量异常者16例,占总数17.5%;染色体平衡易位5例,占总数5%;10例AZF区域STS位点缺失,占总数11%;二项检测异常发生率为34%。42例严重少精子症患者检出染色体平衡易位4例,占总数9.5%;AZF区域STS位点缺失5例,占总数11.9%,二项检测异常发生率为21.4%。结论染色体核型分析和Y染色体微缺失是男性生精障碍重要的遗传检测指标。
Objective To analyze the etiology of male spermatogenesis disorder from the perspective of genetics and provide basis for clinical treatment and genetic counseling. Methods Totally 91 patients with azoospermia and 42 patients with severe oligospermia were enrolled in this study. Peripheral blood karyotype analysis and Y chromosome AZF microdeletion were used for detection. Results Among the 91 patients with primary azoospermia, 16 cases were abnormal in chromosome number, accounting for 17.5% of the total. Chromosomal equilibrium translocations were found in 5 cases (5% of the total). The deletion of STS in 10 cases of AZF was 11%. The incidence of two abnormalities was 34%. Forty-two patients with severe oligospermia had chromosome balance translocation in 4 cases, accounting for 9.5% of the total. Five cases were deleted in the AZF region, accounting for 11.9% of the total. The incidence of binomial abnormalities was 21.4%. Conclusion Chromosomal karyotype analysis and Y chromosome microdeletions are important genetic markers of spermatogenesis in male.