西南地区4 278例男性不育患者Y染色体微缺失及核型异常的发生率及特征  

Frequency and characteristics of Y chromosome microdeletions and karyotypic abnormalities among 4278 infertile male patients from southwest China

作　　者：刘莎[1,2] 鲜泱 李福平[1] Liu Sha;Xian Yang;Li Fuping(Department of Reproductive Andrology/Human Sperm Bank,MoE Key Laboratory of Birth Defects and Related Diseases of Women and Children,West China Second University Hospital,Sichuan University,Chengdu,Sichuan 610041,China;Department of Medical Genetics,MoE Key Laboratory of Birth Defects and Related Diseases of Women and Children,West China Second University Hospital,Sichuan University,Chengdu,Sichuan 610041,China)

机构地区：[1]四川大学华西第二医院生殖男科/人类精子库出生缺陷与相关妇儿疾病教育部重点实验室,成都610041 [2]四川大学华西第二医院医学遗传科出生缺陷与相关妇儿疾病教育部重点实验室,成都610041

出　　处：《中华医学遗传学杂志》2024年第5期513-518,共6页Chinese Journal of Medical Genetics

基　　金：四川省科技计划(2022YFS0045)。

摘　　要：目的分析西南地区男性不育患者Y染色体无精子症因子AZF微缺失以及核型异常的发生频率及特征。方法选取2018年9月至2023年7月就诊于四川大学华西第二医院的4278例不育男性作为研究对象,回顾性分析患者Y染色体微缺失检测和G显带染色体核型分析的结果。结果共收集4278例患者的临床资料,其中无精症2048例,重度少精症1536例,轻~中度少精症310例,精子浓度正常的不育患者384例。染色体核型分析在2421例中共检出异常核型异常213例,检出率为8.80%。在4278例患者中共检出422例Y染色体微缺失,检出率为9.86%,其中无精症、重度少精症、轻~中度少精症和精子浓度正常但不育患者的检出率分别为10.4%、13.28%、0.97%和0.52%。结论Y染色体微缺失检测及染色体核型分析是评估男性不育原因的重要工具,及早确诊将有助于对生育方式的选择。Objective To determine the frequency and characteristics of AZF microdeletions of Y chromosome and karyotypic abnormalities among infertile male patients from southwest China.Methods 4278 infertile male patients treated at West China Second University Hospital of Sichuan University from September 2018 to July 2023 were selected as the study subjects.Results of Y chromosome microdeletion detection and G-banded karyotyping analysis were retrospectively reviewed.Results Clinical data of the patients were collected,which have included 2048 patients with azoospermia,1536 patients with oligozoospermia,310 patients with mild to moderate oligozoospermia,and 384 patients with infertility but normal sperm concentration.An abnormal karyotype was found in 213(8.80%)of 2421 patients who had undergone karyotyping analysis.The frequency of Y chromosome microdeletions was 9.86%(422/4278),which had occurred in 10.4%,13.28%,0.97%and 0.52%of the cases with azoospermia,severe oligozoospermia,mild to moderate oligozoospermia,and infertility with normal sperm concentration,respectively.Conclusion Y chromosome microdeletion detection and karyotyping analysis are crucial for assessing the cause of male infertility.Early diagnosis can facilitate the selection of reproductive methods.

关 键 词：不育 男(雄)性 无精子症 Y染色体微缺失 染色体核型分析 

分 类 号：R698.2[医药卫生—泌尿科学]