614例新疆地区少精子症和无精子症患者遗传学病因及性激素水平分析

Analysis of genetic etiology and sex hormone levels in 614 patients with oligozoospermia and azoospermia in Xinjiang

目的分析无精子症和少精子症患者遗传因素以及与性激素水平的关系。方法回顾性分析2017年7月至2022年9月间佳音医院收治的307例无精子症患者、307例少精症子患者和301例精液正常男性的临床检验资料,包括外周血染色体核型、Y染色体拷贝数变异(Y-CNV)和性激素水平,分析相关的检测异常发生率以及与血清激素水平的关系。结果(1)所有入组患者中共检出130例染色体核型异常(包括染色体多态),异常检出率14.20%(130/915)。其中,无精子症组异常检出率20.19%(62/307),少精子症组异常检出率12.05%(37/307),对照组异常检出率10.29%(31/301)。130例核型异常中,常染色异常21例(2.29%)、常染色体正常多态性47例(5.13%);性染色体异常37例(4.04%),性染色体正常多态性22例(2.40%);另有2例表现为常染色体+性染色体正常多态性变化,1例表现为常染色体和X染色体相互易位。染色体核型异常患者中47,XXY(克氏综合征)检出最多(23例),46,XX(性反转)次之(6例)。(2)无精子症组检出56例Y-CNV异常(18.24%),少精子症组检出62例(20.19%),对照组检出3例(0.99%);少、无精子症患者Y-CNV异常检出率显著高于对照组(P<0.05)。(3)各组患者间血清FSH和LH水平比较均有统计学差异(P<0.05),其中无精子症组FSH和LH水平最高,少精子症组次之,对照组最低;少、无精子症患者中,染色体核型异常组血清FSH和LH水平显著高于染色体核型正常组(P<0.05);少、无精子症组中,Y-CNV异常组与正常组性激素水平比较无统计学差异(P>0.05)。结论无精子症患者和少精子症患者易出现Y染色体拷贝数变异异常以及染色体核型、性激素水平异常,对少精子症和无精子症患者进行染色体核型、Y染色体拷贝数变异以及性激素联合检测,有助于为后续的生殖治疗提供合理的临床方案。

Objective:To analyze the correlation between genetic factors and sex hormone levels in patients with azoospermia and oligozoospermia.Methods:The clinical data of 307 patients with azoospermia,307 patients with oligozoospermia and 301 men with normal semen admitted to our hospital from July 2017 to September 2022 were retrospectively analyzed.The peripheral blood chromosome karyotype,Y chromosome copy number variation(Y-CNV)and serum hormone levels were detected.The incidence of related detection abnormalities and their relationship with serum hormone levels were analyzed.Results:There were 130 patients with chromosomal karyotype abnormalities(including chromosomal polymorphisms)in the three groups,and the abnormal detection rate was 14.20%(130/915).Among them,the abnormal detection rate in the azoospermia group was 20.19%(62/307),the abnormal detection rate in the oligozoospermia group was 12.05%(37/307),and the abnormal detection rate in the control group was 10.29%(31/301).In 130 patients with karyotype abnormalities,21 patients(2.29%)had autosomal abnormalities and 47 patients(5.13%)had autosomal normal polymorphism.Thirty-seven patients(4.04%)had abnormal sex chromosome,and 22 patients(2.40%)had sex chromosome normal polymorphism.Another 2 patients had normal polymorphism of autosome&sex chromosome,and 1 patient had reciprocal translocation of autosome and X chromosome.In patients with abnormal karyotype,47,XXY(Klinefelter syndrome)was the most detected(23 cases),followed by 46,XX(sexual reversal)(6 cases).There were 56 patients(18.24%)with Y-CNV abnormality in the azoospermia group,62 patients(20.19%)with Y-CNV abnormality in the oligozoospermia group,and 3 patients(0.99%)with Y-CNV abnormality in the normal group.The detection rate of Y-CNV abnormalities in patients with oligozoospermia or azoospermia was significantly higher than that in the control group(P<0.05).There were significant differences in FSH and LH levels among the three groups(P<0.05).The azoospermia group had the highest levels of FSH and LH,followed by the oligozoospermia group,and the control group had the lowest levels.In the patients with oligozoospermia or azoospermia,the serum FSH and LH levels in the patients with abnormal chromosomal karyotype group were significantly higher than those in the patients with normal chromosomal karyotype group(P<0.05).In the patients with oligozoospermia or azoospermia groups,there was no significant difference in sex hormone levels between the abnormal Y-CNV group and the normal Y-CNV group(P>0.05).Conclusions:Patients with azoospermia or oligozoospermia are prone to abnormal Y chromosome copy number variation,abnormal chromosome karyotype and abnormal sex hormone levels.Combined detection of chromosome karyotype,Y chromosome copy number variation and sex hormone level in patients with oligozoospermia or azoospermia is helpful to provide a reasonable clinical regime for subsequent reproductive treatment.