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无精子症或严重少精子症患者中AZFc微缺失的发生率及遗传生殖特征

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

作者信息

Zhou Chiyan, Wang Hui, Zhu Qin, Wang Luming, Zhu Binzhen, Liu Xiaodan

机构信息

Prenatal Diagnosis Center, the Affiliated Maternity and Child Health Care Hospital of Jiaxing College, Jiaxing, Zhejiang 314000, China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jan 10;40(1):26-30. doi: 10.3760/cma.j.cn511374-20210113-00038.

DOI:10.3760/cma.j.cn511374-20210113-00038
PMID:36584996
Abstract

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 1 364 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.

摘要

目的

探讨无精子症或严重少精子症患者中无精子症因子c(AZFc)微缺失的发生率、其与性激素/染色体核型的关系以及对卵胞浆内单精子注射(ICSI)治疗后妊娠结局的影响。

方法

对2013年至2020年在嘉兴学院附属妇幼保健院就诊的1364例无精子症或严重少精子症男性进行AZF微缺失和染色体核型分析。将AZFc缺失患者的生殖激素水平与对照组A(精子指标正常)和对照组B(无AZFc微缺失的无精子症或严重少精子症患者)进行比较。比较AZFc-ICSI夫妇与对照组在受精率、优质胚胎率和临床妊娠率方面的妊娠结局。

结果

共发现51例患者存在AZFc微缺失,检出率为3.74%。7例患者还存在染色体畸变。与对照组A相比,AZFc缺失患者的PRL、FSH和LH水平较高(P<0.05),而与对照组B相比,仅PRL和FSH升高(P<0.05)。22对AZFc夫妇接受了ICSI治疗,AZFc-ICSI夫妇与对照组在优质胚胎率和临床妊娠率方面无显著差异(P>0.05)。

结论

无精子症或严重少精子症患者中AZFc微缺失的发生率为3.74%。AZFc微缺失与染色体畸变及PRL、FSH和LH水平升高有关,但不影响ICSI治疗后的临床妊娠率。

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