550例男性不育症患者染色体核型和Y染色体微缺失情况分析  

Analysis of chromosomal karyotypes and Y chromosome microdeletion of 550 male infertile patients

作　　者：靳化 赵勇[2] 钟建容 沈梦尘 陈蕾[1,2] Jin Hua;Zhao Yong;Zhong Jian-Rong;Shen Meng-Chen;Chen Lei(Naval Clinical College,Anhui Medical University,Hefei 230032,China;Department of Obstetrics and Gynecology,the Sixth Medical Center of Chinese PLA General Hospital,Beijing 100048,China;School of Medicine,South China University of Technology,Guangzhou 510006,China)

机构地区：[1]安徽医科大学海军临床学院,合肥230032 [2]解放军总医院第六医学中心妇产科,北京100048 [3]华南理工大学医学院,广州510006

出　　处：《解放军医学杂志》2021年第11期1123-1128,共6页Medical Journal of Chinese People's Liberation Army

摘　　要：目的分析男性不育症患者的染色体核型及Y染色体微缺失情况。方法回顾性分析2018年9月-2020年12月于解放军总医院第六医学中心生殖中心就诊的550例男性不育症患者的临床检验资料,其中无精子症187例,少精子症363例(极严重90例、严重101例、轻中度172例)。同时纳入健康男性246名作为对照。对所有男性进行染色体核型及Y染色体微缺失检测分析精子浓度与染色体核型、Y染色体微缺失的关系。对其中156例无精子症、70例极严重少精子症、75例严重少精子症及75例正常男性进行性激素(促黄体生成素、卵泡刺激素、催乳素、睾酮)检测,进而比较不同精子浓度及有无Y染色体微缺失人群的性激素水平。结果550例男性不育症患者及246名健康男性中共有62例染色体核型异常或染色体正常多态性,其中染色体异常28例,染色体正常多态性34例。550例不育症患者中共检出Y染色体微缺失38例,其中无精子症17例、极严重少精子症18例、严重少精子症2例、轻中度少精子症1例,AZFc区缺失为最常见类型。无精子症、极严重少精子症及严重少精子症患者中,Y染色体微缺失者的卵泡刺激素水平高于无Y染色体微缺失者(P=0.032)。结论男性不育症患者可发生染色体异常,且Y染色体微缺失发生率较高;遗传学检查有助于明确是否患有遗传学疾病,从而选择合适的治疗方法及辅助生殖方式。Objective To analyze the chromosome karyotype and Y chromosome microdeletion of male infertility.Methods Retrospective analysis of the clinical test data of 550 infertile patients who were treated at the Reproductive Center of the Sixth Medical Center of Chinese PLA General Hospital from September 2018 to December 2020.Among them,there were 187 patients of azoospermia and 363 patients of oligozoospermia(90 patients of very severe oligospermia,101 patients of severe oligospermia,172 patients of mild to moderate oligozoospermia).Two hundred and forty-six normal males were included as controls.Everyone underwent peripheral blood chromosome karyotype and Y chromosome microdeletion examinations.Among them,156 patients of azoospermia,70 patients of very severe oligospermia,75 patients of severe oligospermia and 75 patients of normal men were tested for sex hormones[luteinizing hormone(LH),follicle stimulating hormone(FSH),prolactin(PRL),testosterone(T)].The sex hormone levels of different sperm concentrations and Y chromosome microdeletion population were compared.Results Among 550 infertile patients and 246 normal men,there were 62 patients of karyotype abnormalities or chromosomal normal polymorphisms,among which:28 patients of chromosomal abnormalities;34 patients of chromosomal normal polymorphisms.A total of 38 patients of Y chromosome microdeletion were detected in 550 infertile patients,17 patients of azoospermia,18 patients of very severe oligospermia,2 patients of severe oligospermia and,1 patient of mild to moderate oligospermia,AZFc region deletion is the most common type.In patients with azoospermia,very severe oligospermia and severe oligospermia,the level of FSH in those with Y chromosome microdeletion is higher than that of those without Y chromosome microdeletion(P=0.032).Conclusions Chromosomal abnormalities can occur in male infertile patients.The incidence of Y chromosome microdeletion is relatively high in male infertile patients.Genetic examination can help to determine whether they have genetic di

关 键 词：不育症 染色体 染色体核型 Y染色体微缺失 性激素 

分 类 号：R698.2[医药卫生—泌尿科学]