【摘要】 目的探讨男性不育症患者Y染色体长度变异的临床意义及与男性生精障碍的关系。方法对2012年1月-2017年10月在我院门诊就诊的1864例男性不育症患者行外周血染色体核型分析和精液常规检测。结果在1264例男性不育症患者中检出Y染色体长度变异核型82例,占6.49%。(1)小Y(Y≤21号染色体)共44例,占53.66%;(2)大Y(Y≥18号染色体)共38例,占46.34%。Y染色体长度变异患者的无精子症和少弱精子症的发生率明显高于健康对照组,差异具有统计学意义(P<0.01)。Y染色体长度变异患者的精子密度明显低于健康对照组,差异具有统计学意义(P<0.01),精液量二组无差异。82例Y染色体长度变异患者进行AZF微缺失检查,发现有24例存在微缺失,检出率29.27%,其中最常见的为AZFc完全缺失检出10例,占12.20%。结论 Y染色体长度变异和微缺失可能是导致男性不育和精子生成障碍的重要原因。更多还原

【Abstract】 Objective:To investigate the clinical significance of Y chromosome length variation in male infertility patients and its relationship with male spermatogenic disorders. Methods:A total of 1864 male infertility patients in our hospital from January 2012 to October 2017 underwent peripheral blood karyotype analysis and routine semen examination. Results:82 cases of Y chromosome length variation karyotype were found in 1264 cases of male infertility,accounting for 6.49%.(1)Small Y(Y≤21 chromosomes),a total of 44 cases,accounting for 53.66%;(2)Large Y(Y≥18 chromosomes),a total of 38 cases,accounting for 46.34%. The incidence of azoospermia and oligozoospermia in patients with Y chromosome length variation was significantly higher than that in healthy controls,the difference was statistically significant(P<0.01). The sperm density of patients with Y chromosome length variation was significantly lower than that of healthy controls(P<0.01). There was no difference between the two groups. 82 cases of Y chromosome length variation AZF microdeletion examination and found that there are 24 cases of microdeletions,the detection rate was 29.27%,of which the most common AZFc complete deletion was detected in 10 cases,accounting for 12.20%. Conclusion:Y chromosome length variation and microdeletions may be an important cause of male infertility and spermatogenesis disorder.更多还原