无精子症病理学分型及其染色体核型和Y染色体无精子因子微缺失分析  

Analysis of Pathological Classification of Azoospermia and Karyotype and Y Chromosome Azoospermia Factor Microdeletions

作　　者：王永霞 李佩佩 顾恒 周冰燚 WANG Yongxia;LI Peipei;GU Heng;ZHOU Bingyi(Department of Eugenics and Genetics,Guangdong Provincial Reproductive Hospital/Guangdong Provincial Reproductive Science Institute,Guangzhou 510600,China)

机构地区：[1]广东省生殖科学研究所,广东省生殖医院优生遗传科,广州510600

出　　处：《医学综述》2024年第2期245-250,共6页Medical Recapitulate

摘　　要：目的探讨无精子症病理学分型及其染色体核型和Y染色体无精子因子(AZF)微缺失结果。方法回顾性分析2017年1月至2021年12月在广东省生殖医院接受睾丸穿刺活检的575例无精子症患者的临床资料,其中244例患者进行了染色体核型和AZF检测。分析患者的睾丸病理结果、染色体核型以及AZF检测结果,再基于主要病理形态学特征进行分型,分析不同类型无精子症的染色体核型以及AZF结果。结果睾丸病理活检结果显示,575例无精子症患者中梗阻性无精子症237例(41.22%)、非梗阻性无精子症338例(58.78%)。其中非梗阻性无精子症包括唯支持细胞综合征198例、精子成熟阻滞121例、生精小管透明变性19例,不同类型患者生精小管内生精细胞和支持细胞的发育特征和分布不同。244例患者中染色体核型正常212例,染色体核型异常32例,其中染色体数目异常3例、Y染色体异常3例、性反转1例,染色体多态25例。AZF微缺失结果显示,244例患者中正常235例,异常9例,均为非梗阻性无精子症,AZFa+b+c区均缺失1例,AZFb+c区同时缺失3例,AZFb区缺失2例,AZFc区缺失3例。结论染色体核型异常和AZF微缺失主要存在于非梗阻性无精子症患者,说明遗传因素是生精细胞发育障碍的重要原因。因此,规范明确的病理分型是无精子症临床诊疗和研究的重要基础,遗传学检查和咨询亦必不可少。Objective To investigate the pathological typing of azoospermia and the results of chromosomal karyotype and azoospermia factor(AZF)microdeletions.Methods The clinical data of 575 azoospermia patients who received hospital treatment and underwent orchycent biopsy in Guangdong Provincial Reproductive Hospital from Jan.2017 to Dec.2021 was retrospectively analyzed,of which 244 patients were tested for karyotype and AZF.The pathological results of testicular biopsy,chromosomal karyotype and AZF test results were analyzed,and the cases were classified according to their main pathological morphological characteristics,and the chromosomal karyotype and AZF results of different types of azoospermia were analyzed.Results According to testicular pathological biopsy results,there were 237 cases(41.22%)of obstructive azoospermia and 338 cases(58.78%)of non-obstructive azoospermia in the 575 patients.The non-obstructive azoospermia included 198 cases of Sertoli cell only syndrome,121 cases of sperm maturation block,19 cases of seminiferous tubular transparent degeneration,and the developmental characteristics and distribution of seminiferous cells and Sertoli cells in seminiferous tubules in different types of patients were different.Among the 244 patients,212 had normal chromosome karyotype and 32 had abnormal chromosome karyotype,including 3 with Y chromosome abnormalities,1 with sex inversion,and 25 with chromosomal polymorphisms.The results of AZF microdeletion showed that 235 of the 244 patients were normal,9 were abnormal,all of which were non-obstructive azoospermia,and 1 of AZFa+b+c region deletion,3 of AZFb+c region deletion,2 of AZFb region deletion and 3 of AZFc region deletion.Conclusion Chromosomal karyotype abnormalities and AZF deletion are mainly present in non-obstructive azoospermia patients,indicating that genetic factors are an important cause of spermatogenic cell development disorders.Therefore,standardized and clear pathological typing is an important basis for the clinical diagnosis and treatment and

关 键 词：无精子症 病理分型 染色体核型 无精子因子 

分 类 号：R698.2[医药卫生—泌尿科学]