An analysis of Y-chromosome microdeletion in infertile Korean men with severe oligozoospermia or azoospermia.

IF 2.5 3区医学 Q2 UROLOGY & NEPHROLOGY

Investigative and Clinical Urology Pub Date : 2024-01-01 DOI:10.4111/icu.20230141

Tae Ho Lee, Seung-Hun Song, Dae Keun Kim, Sung Han Shim, Daeun Jeong, Dong Suk Kim

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引用次数: 0

Abstract

Purpose: Infertility affects 10% to 15% of couples, and male factor accounts for 50% of the cases. The relevant male genetic factors, which account for at least 15% of male infertility, include Y-chromosome microdeletions. We investigated clinical data and patterns of Y-chromosome microdeletions in Korean infertile men.

Materials and methods: A total of 919 infertile men whose sperm concentration was ≤5 million/mL in two consecutive analyses were investigated for Y-chromosome microdeletion. Among them, 130 infertile men (14.1%) demonstrated Y-chromosome microdeletions. Medical records were retrospectively reviewed.

Results: In 130 men with Y-chromosome microdeletions, 90 (69.2%) had azoospermia and 40 (30.8%) had severe oligozoospermia. The most frequent microdeletions were in the azoospermia factor (AZF) c region (77/130, 59.2%), followed by the AZFb+c (30/130, 23.1%), AZFa (8/130, 6.2%), AZFb (7/130, 5.4%), AZFa+b+c (7/130, 5.4%), and AZFa+c (1/130, 0.7%) regions. In men with oligozoospermia, 37 (92.5%) had AZFc microdeletion. Chromosomal abnormalities were detected in 30 patients (23.1%). Higher follicle-stimulating hormone level (23.2±13.5 IU/L vs. 15.1±9.0 IU/L, p<0.001), higher luteinizing hormone level (9.7±4.6 IU/L vs. 6.0±2.2 IU/L, p<0.001), and lower testis volume (10.6±4.8 mL vs. 13.3±3.8 mL, p<0.001) were observed in azoospermia patients compared to severe oligozoospermia patients.

Conclusions: Y-chromosome microdeletion is a common genetic cause of male infertility. Therefore, Y-chromosome microdeletion test is recommended for the accurate diagnosis of men with azoospermia or severe oligozoospermia. Appropriate genetic counseling is mandatory before the use of assisted reproduction technique in men with Y-chromosome microdeletion.

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对患有严重少精症或无精症的韩国不育男性的 Y 染色体微缺失情况进行分析。

目的：10%至 15%的夫妇患有不孕症，其中男性因素占 50%。相关的男性遗传因素至少占男性不育症的 15%，其中包括 Y 染色体微缺失。我们调查了韩国不育男性的临床数据和 Y 染色体微缺失的模式：我们对连续两次分析中精子浓度≤500 万/毫升的 919 名不育男性进行了 Y 染色体微缺失调查。其中，130 名不育男性（14.1%）表现出 Y 染色体微缺失。对病历进行了回顾性分析：130名Y染色体微缺失男性中，90人（69.2%）患有无精子症，40人（30.8%）患有严重少精子症。最常见的微缺失位于无精子症因子（AZF）c区（77/130，59.2%），其次是AZFb+c区（30/130，23.1%）、AZFa区（8/130，6.2%）、AZFb区（7/130，5.4%）、AZFa+b+c区（7/130，5.4%）和AZFa+c区（1/130，0.7%）。在少精子症男性中，37 人（92.5%）患有 AZFc 小缺失。30名患者（23.1%）检测到染色体异常。卵泡刺激素水平较高（23.2±13.5 IU/L vs. 15.1±9.0 IU/L，p结论）：Y染色体微缺失是导致男性不育的常见遗传原因。因此，建议进行 Y 染色体微缺失检测，以准确诊断无精子症或严重少精子症男性。在对 Y 染色体微缺失男性使用辅助生殖技术之前，必须进行适当的遗传咨询。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Investigative and Clinical Urology Medicine-Urology

CiteScore

4.10

自引率

4.30%

发文量

审稿时长

4 weeks

期刊介绍： Investigative and Clinical Urology (Investig Clin Urol, ICUrology) is an international, peer-reviewed, platinum open access journal published bimonthly. ICUrology aims to provide outstanding scientific and clinical research articles, that will advance knowledge and understanding of urological diseases and current therapeutic treatments. ICUrology publishes Original Articles, Rapid Communications, Review Articles, Special Articles, Innovations in Urology, Editorials, and Letters to the Editor, with a focus on the following areas of expertise: • Precision Medicine in Urology • Urological Oncology • Robotics/Laparoscopy • Endourology/Urolithiasis • Lower Urinary Tract Dysfunction • Female Urology • Sexual Dysfunction/Infertility • Infection/Inflammation • Reconstruction/Transplantation • Geriatric Urology • Pediatric Urology • Basic/Translational Research One of the notable features of ICUrology is the application of multimedia platforms facilitating easy-to-access online video clips of newly developed surgical techniques from the journal''s website, by a QR (quick response) code located in the article, or via YouTube. ICUrology provides current and highly relevant knowledge to a broad audience at the cutting edge of urological research and clinical practice.