Frequency and characteristics of Y chromosome microdeletions and karyotypic abnormalities among 4 278 infertile male patients from southwest China
10.3760/cma.j.cn511374-20231127-00275
- VernacularTitle:西南地区4 278例男性不育患者Y染色体微缺失及核型异常的发生率及特征
- Author:
Sha LIU
1
;
Yang XIAN
;
Fuping LI
Author Information
1. 四川大学华西第二医院生殖男科/人类精子库 出生缺陷与相关妇儿疾病教育部重点实验室，成都 610041
- Keywords:
Infertility, male;
Azoospermia;
Y chromosome microdeletion;
Karyotyping analysis
- From:
Chinese Journal of Medical Genetics
2024;41(5):513-518
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To determine the frequency and characteristics of AZF microdeletions of Y chromosome and karyotypic abnormalities among infertile male patients from southwest China. Methods:4 278 infertile male patients treated at West China Second University Hospital of Sichuan University from September 2018 to July 2023 were selected as the study subjects. Results of Y chromosome microdeletion detection and G-banded karyotyping analysis were retrospectively reviewed.Results:Clinical data of the patients were collected, which have included 2 048 patients with azoospermia, 1 536 patients with oligozoospermia, 310 patients with mild to moderate oligozoospermia, and 384 patients with infertility but normal sperm concentration. An abnormal karyotype was found in 213 (8.80%) of 2 421 patients who had undergone karyotyping analysis. The frequency of Y chromosome microdeletions was 9.86% (422/4 278), which had occurred in 10.4%, 13.28%, 0.97% and 0.52% of the cases with azoospermia, severe oligozoospermia, mild to moderate oligozoospermia, and infertility with normal sperm concentration, respectively.Conclusion:Y chromosome microdeletion detection and karyotyping analysis are crucial for assessing the cause of male infertility. Early diagnosis can facilitate the selection of reproductive methods.
