无精症患者的遗传因素与性激素水平的临床分析  

Clinical analysis of genetic factors and sex hormone levels in patients with azoospermia

作　　者：梁灼健 何慧燕 赵鑫 秦娟 廖秋燕 汤冬娥 Liang Zhuojian;He Huiyan;Zhao Xin;Qin Juan;Liao Qiuyan;Tang Dong'e(Department of Clinical Medicine Research Center,Shenzhen People's Hospital(the Second Clinical Medical College of Jinan University),Shenzhen 518020,China)

机构地区：[1]深圳市人民医院(暨南大学第二临床医学院)临床医学研究中心,深圳518020

出　　处：《国际泌尿系统杂志》2022年第1期68-72,共5页International Journal of Urology and Nephrology

基　　金：广东省科技计划项目(2017B020209001);广东省自然科学基金-博士启动项目(2017A030310629)。

摘　　要：目的探讨无精症患者的遗传因素与性激素水平的关系。方法选取本院2015年7月至2019年9月被确诊为无精症的113例患者作为试验组,30例精子数量正常人作为对照组,分别进行外周血染色体核型、Y染色体AZF微缺失以及性激素检测。结果在113例无精症患者中检出染色体异常核型36例(31.9%),异常核型具体如下:47,XXY共21例(58.3%)、性反转共6例(16.7%)、易位共1例(2.8%)、倒位共2例(5.6%)、Y缺失共1例(2.8%)、性染色体嵌合共1例(2.8%)、染色体多态共4例(11.1%),对照组未检出异常,试验组患者的染色体核型异常率明显高于对照组,差异有统计学意义(P<0.05)。试验组Y染色体AZF微缺失16例(14.2%),其中AZFa缺失1例(6.3%),AZFb缺失2例(12.5%),AZFc缺失6例(37.5%),AZFb+AZFc缺失4例(25.0%),AZFa+AZFb+AZFc缺失3例(18.8%),对照组未见异常。试验组患者的AZF微缺失异常率明显高于对照组,差异有统计学意义(P<0.05)。试验组的促卵泡生成素(FSH)、促黄体生成素(LH)与催乳素(PRL)水平均显著高于对照组,试验组患者的睾酮(T)水平显著低于对照组,差异有统计学意义(P<0.05)。异常染色体核型患者中47,XXY(Klinefelter综合征)发生率最高。异常核型患者中46,XX(性反转)的发生率仅次于47,XXY。6例性反转患者染色体核型均为女性核型(46,XX),其LH、FSH、PRL水平明显高于对照组,差异有统计学意义(P<0.05);试验组中其他染色体异常核型患者的LH、FSH、PRL、T水平与对照组比较,差异无统计学意义(P>0.05)。结论染色体核型异常、Y染色体AZF微缺失、性激素水平异常与无精症密切相关。因此对无精患者进行染色体核型、Y染色体AZF微缺失以及性激素联合检测,能更加科学、有效地了解患者病情,有助于为后续的生殖治疗提供合理的临床方案。Objective To explore the relationship between genetic factors and sex hormone levels in patients with azoospermia.Methods A total of 113 patients diagnosed with azoospermia in our hospital from July 2015 to September 2019 were selected as experimental group and 30 normal spermatozoid subjects as control group.Peripheral blood chromosome karyotype,AZF microdeletion on Y chromosome and sex hormone detection were performed respectively.Results Abnormal karyotypes were detected in 36 cases(31.9%)of 113 azoospermia patients.The specific karyotypes were as fol-lows:47,XXY in 21 cases(58.3%),sex reversal in 6 cases(16.7%),translocation in 1 case(2.8%),inversion in 2 cases(5.6%),Y deletion in 1 case(2.8%),sex chromosome chimerism in 1 case(2.8%),chromosome polymorphism in 4 cases(11.1%).No abnormality was detected in the control group.The chromosome karyotype abnormality rate in experimental group was significantly higher than that in control group,the difference was statistically significant(P<0.05).There were 16 AZF microdeletion cases(14.2%)on Y chromosome,including 1 AZFa(6.3%),2 AZFb(12.5%),6 AZFc(37.5%),4 AZFb+AZFc(25.0%),and 3 AZFa+AZFb+AZFc(18.8%).No abnormality was observed in the control group.The abnormal rate of AZF microdeletion in experimental group was significantly higher than that in control group,and the difference was statistically significant(P<0.05).The levels of follicle-stimulating hormone(FSH),luteinizing hormone(LH)and prolactin(PRL)in experimental group were significantly higher than those in control group,while the level of testosterone(T)in experimental group was significantly lower than that in control group,the difference was statistically significant(P<0.05).The incidence of 47,XXY(Klinefelter syndrome)was the highest.The incidence of 46,XX(sexual reversal)in the abnormal karyotype test group was second only to 47,XXY.The chromosome karyotypes of the 6 patients with sex reversal were female karyotype(46,XX),and the levels of LH,FSH and PRL were significantly higher than those of the control

关 键 词：无精子症 染色体畸变 Y染色体微缺失 性腺甾类激素 

分 类 号：R698.2[医药卫生—泌尿科学]