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. 2024 Oct;31(10):3074-3085.
doi: 10.1007/s43032-024-01568-x. Epub 2024 Jun 5.

Clinical Analysis of Y Chromosome Microdeletions and Chromosomal Aberrations in 1596 Male Infertility Patients of the Zhuang Ethnic Group in Guangxi

Mingfang Shi #  1   2 , Shengjun Ma #  1   2 , Li Huang  1   2 , Chaosheng Huang  1   2 , Jing Wang  1   2 , Xuemei Qin  1   2 , Yibing Luo  1   2 , Yu Xiong  1   2 , Ningyu He  3   4 , Jianghui Zeng  5   6
Affiliations

Clinical Analysis of Y Chromosome Microdeletions and Chromosomal Aberrations in 1596 Male Infertility Patients of the Zhuang Ethnic Group in Guangxi

Mingfang Shi et al. Reprod Sci. 2024 Oct.

Abstract

The long arm of the Y chromosome (Yq) contains many amplified and palindromic sequences that are prone to self-reorganization during spermatogenesis, and tiny submicroscopic segmental deletions in the proximal Yq are called Y chromosome microdeletions (YCM). A retrospective study was conducted on male infertility patients of Zhuang ethnicity who presented at Reproductive Medical Center of Nanning between January 2015 and May 2023. Seminal fluid was collected for standard examination. YCM were detected by using a combination of multiplex PCR and agarose gel electrophoresis. Preparation of peripheral blood chromosomes and karyotyping of chromosomes was performed. 147 cases (9.22%) of YCM were detected in 1596 male infertility patients of Zhuang ethnicity. Significant difference was found in the detection rate of YCM between the azoospermia group and the oligospermia group (P < 0.001). Of all types of YCM, the highest detection rate was AZFc (n = 83), followed by AZFb + c (n = 28). 264 cases (16.54%) of sex chromosomal aberrations were detected. The most prevalent karyotype was 47, XXY (n = 202). The detection rate of sex chromosomal aberrations in azoospermia group was higher than that in severe oligospermia group and oligospermia group, and the differences were significant (P < 0.001). 28 cases (1.57%) of autosomal aberrations and 105 cases (6.58%) of chromosomal polymorphism were identified. The current research has some limitations due to the lack of normal men as the control group but suggests that YCM and chromosomal aberrations represent key genetic factors influencing spermatogenesis in infertile males of Zhuang ethnicity in Guangxi.

Keywords: Chromosome; Male infertility; Y chromosome microdeletions; Zhuang ethnicity.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Fig. 1
Fig. 1
Percentage of Y Chromosome microdeletions (YCM) in azoospermia group, severe oligospermia group and oligospermia group. *Comparison with severe oligospermia group, P < 0.05; #Comparison with oligospermia group, P < 0.05
Fig. 2
Fig. 2
The proportion of patients with YCM in the azoospermia, severe oligozoospermia, and oligozoospermia
See this image and copyright information in PMC

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