男性不育患者Y染色体微缺失、染色体核型及性激素水平分析

Analysis of Y chromosome microdeletion,chromosome karyotypes and levels of sex hormones in male infertility patients

目的分析男性不育患者Y染色体微缺失、染色体核型及性激素水平,探讨其对男性患者不育诊断与治疗的价值。方法选取2017年1月至2021年1月因不育至金华市中心医院就诊的男性患者362例。排除梗阻性无精症患者,其中无精症112例、严重少精症151例、精液质量正常99例。采集所有患者外周血标本3份,分别行Y染色体微缺失检测、细胞遗传学分析和性激素水平检测。结果362例患者Y染色体微缺失有28例(7.7%),包括无精子因子(AZF)b位点缺失2例、AZFc位点缺失21例、AZFbc位点缺失3例、AZFabc位点缺失2例。无精症组、严重少精症组、精子正常组Y染色体微缺失率分别为11.6%、9.9%、0.0%,差异有统计学意义(P<0.05)。无精症组、严重少精症组、精液正常组染色体核型异常率分别为16.1%、2.6%、0.0%,差异有统计学意义(P<0.05)。3组患者促卵泡激素、黄体生成素水平比较,差异均有统计学意义(均P<0.05),其中无精症组、严重少精症组明显高于精液正常组(均P<0.05);3组患者睾酮和催乳素水平比较,差异均无统计学意义(均P>0.05)。结论无精症和严重少精症患者易出现Y染色体AZFc位点缺失以及染色体核型、性激素水平异常。

Objective To analyze the Y chromosome microdeletion,chromosome karyotypes and levels of sex hormones in male infertility patients.Methods A total of 362 male patients with male infertility treated in Jinhua Central Hospital from January 2017 to January 2021 were enrolled in the study,including 112 cases of aspermia,151 cases of severe oligospermia and 99 cases with normal semen quality.The peripheral blood samples were collected to detect Y chromosome microdeletion,chromosome karyotypes and levels of sex hormone.Results The Y chromosome microdeletions were detected in 28 cases(7.7%),including 2 cases of AZFb,21 cases of AZFc,3 cases of AZFbc and 2 cases of AZFabc.The rates of Y chromosome microdeletion in azoospermia group,severe oligospermia group and normal sperm group were 11.6%,9.9%and 0.0%,respectively(P<0.05).The rates of abnormal chromosome karyotype in azoospermia group,severe oligospermia group and normal semen group were 16.1%,2.6%and 0.0%,respectively(P<0.05).The levels of follicle stimulating hormone and luteinizing hormone in azoospermia group and severe oligospermia group were significantly higher than those in normal semen group(all P<0.05).There was no significant difference in the levels of testosterone and prolactin among three groups(both P>0.05).Conclusion AZFc site deletion on Y chromosome,abnormal chromosome karyotypes and abnormal levels of sex hormones are common in azospermia and severe oligospermia patients.