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Journal of Assisted Reproduction and Genetics

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25-01-2024 | Infertility | Genetics

Y chromosome polymorphisms contribute to an increased risk of non-obstructive azoospermia: a retrospective study of 32,055 Chinese men

Authors: Jing-Ping Li, Feng-Bin Zhang, Le-Jun Li, Wei-Kang Chen, Jing-Gen Wu, Yong-Hong Tian, Zhong-Yan Liang, Chong Chen, Fan Jin

Published in: Journal of Assisted Reproduction and Genetics | Issue 3/2024

Abstract

Purpose

To investigate the prevalence of Y chromosome polymorphisms in Chinese men and analyze their associations with male infertility and female adverse pregnancy outcomes.

Methods

The clinical data of 32,055 Chinese men who underwent karyotype analysis from October 2014 to September 2019 were collected. Fisher’s exact test, chi-square test, or Kruskal–Wallis test was used to analyze the effects of Y chromosome polymorphism on semen parameters, azoospermia factor (AZF) microdeletions, and female adverse pregnancy outcomes.

Results

The incidence of Y chromosome polymorphic variants was 1.19% (381/32,055) in Chinese men. The incidence of non-obstructive azoospermia (NOA) was significantly higher in men with the Yqh- variant than that in men with normal karyotype and other Y chromosome polymorphic variants (p < 0.050). The incidence of AZF microdeletions was significantly different among the normal karyotype and different Y chromosome polymorphic variant groups (p < 0.001). The detection rate of AZF microdeletions was 28.92% (24/83) in the Yqh- group and 2.50% (3/120) in the Y ≤ 21 group. The AZFb + c region was the most common AZF microdeletion (78.57%, 22/28), followed by AZFc microdeletion (7.14%,2/28) in NOA patients with Yqh- variants. There was no significant difference in the distribution of female adverse pregnancy outcomes among the normal karyotype and different Y chromosome polymorphic variant groups (p = 0.528).

Conclusions

Patients with 46,XYqh- variant have a higher incidence of NOA and AZF microdeletions than patients with normal karyotype and other Y chromosome polymorphic variants. Y chromosome polymorphic variants do not affect female adverse pregnancy outcomes.

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Title: Y chromosome polymorphisms contribute to an increased risk of non-obstructive azoospermia: a retrospective study of 32,055 Chinese men
Authors: Jing-Ping Li
Feng-Bin Zhang
Le-Jun Li
Wei-Kang Chen
Jing-Gen Wu
Yong-Hong Tian
Zhong-Yan Liang
Chong Chen
Fan Jin
Publication date: 25-01-2024
Publisher: Springer US
Keywords: Infertility
Infertility
Published in: Journal of Assisted Reproduction and Genetics / Issue 3/2024
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-024-03022-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Y chromosome polymorphisms contribute to an increased risk of non-obstructive azoospermia: a retrospective study of 32,055 Chinese men

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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