AZFc微缺失在无精子症/严重少精子症男性中的发生率及遗传生殖学特点  

Incidence and genetic reproductive characteristics of AZFc microdeletion among patients with azoospermia or severe oligospermia

作　　者：周赤燕 王慧 朱琴 王路明 朱斌臻 刘晓丹 Zhou Chiyan;Wang Hui;Zhu Qin;Wang Luming;Zhu Binzhen;Liu Xiaodan(Reproductive Medicine Center,the Affiliated Maternity and Child Health Care Hospital of Jiaxing College,Jiaxing,Zhejiang 314000,China;Prenatal Diagnosis Center,the Affiliated Maternity and Child Health Care Hospital of Jiaxing College,Jiaxing,Zhejiang 314000,China)

机构地区：[1]嘉兴学院附属妇儿医院产前诊断中心,嘉兴314000 [2]嘉兴学院附属妇儿医院生殖医学中心,嘉兴314000

出　　处：《中华医学遗传学杂志》2023年第1期26-30,共5页Chinese Journal of Medical Genetics

基　　金：贺林院士基金(19331102)。

摘　　要：目的探讨无精子因子c区(AZFc)微缺失在无精子症/严重少精子症男性中的发生率,并分析其与染色体核型、生殖激素的相关性及其对卵胞浆内单精子显微注射(ICSI)术后妊娠结局的影响。方法选取2013年1月1日至2020年12月31日于嘉兴学院附属妇儿医院就诊的1364例无精子症/严重少精子症男性为研究对象。对无精子症/严重少精子症男性进行AZFc微缺失检测和染色体核型分析,比较AZFc缺失男性与对照组A(精液分析正常)、对照组B(无AZFc微缺失的无精子症/严重少精子症男性)的生殖激素水平。跟踪随访AZFc-ICSI夫妇的妊娠结局,将其受精率、优胚率和临床妊娠率与ICSI对照组进行比较。结果共检出AZFc微缺失51例,检出率为3.74%,其中7例存在染色体核型异常。与对照组A相比,AZFc微缺失男性的泌乳素(PRL)、卵泡刺激素(FSH)和促黄体素(LH)均有不同程度的升高(P<0.05)。与对照组B相比,仅PRL与FSH显著上调(P<0.05)。共有22对AZFc夫妇在本院接受ICSI辅助妊娠,其优胚率和临床妊娠率与ICSI对照组的差异无统计学意义(P>0.05)。结论AZFc微缺失在无精子症/严重少精子症男性中的发生率为3.74%,与染色体核型异常相关,并伴有不同程度的PRL、FSH和LH上调,但不会降低ICSI术后的临床妊娠率。Objective To explore the incidence of azoospermia factor c(AZFc)microdeletion among patients with azoospermia or severe oligospermia,its association with sex hormone/chromosomal karyotype,and its effect on the outcome of pregnancy following intracytoplasmic sperm injection(ICSI)treatment.Methods A total of 1364 males with azoospermia or severe oligospermia who presented at the Affiliated Maternity and Child Health Care Hospital of Jiaxing College between 2013 and 2020 were subjected to AZF microdeletion and chromosome karyotyping analysis.The level of reproductive hormones in patients with AZFc deletions was compared with those of control groups A(with normal sperm indices)and B(azoospermia or severe oligospermia without AZFc microdeletion).The outcome of pregnancies for the AZFc-ICSI couples was compared with that of the control groups in regard to fertilization rate,superior embryo rate and clinical pregnancy rate.Results A total of 51 patients were found to harbor AZFc microdeletion,which yielded a detection rate of 3.74%.Seven patients also had chromosomal aberrations.Compared with control group A,patients with AZFc deletion had higher levels of PRL,FSH and LH(P<0.05),whilst compared with control group B,only the PRL and FSH were increased(P<0.05).Twenty two AZFc couples underwent ICSI treatment,and no significant difference was found in the rate of superior embryos and clinical pregnancy between the AZFc-ICSI couples and the control group(P>0.05).Conclusion The incidence of AZFc microdeletion was 3.74%among patients with azoospermia or severe oligospermia.AZFc microdeletion was associated with chromosomal aberrations and increased levels of PRL,FSH and LH,but did not affect the clinical pregnancy rate after ICSI treatment.

关 键 词：生精障碍 核型分析 生殖激素 辅助生殖 

分 类 号：R698.2[医药卫生—泌尿科学]