Investigation of Chromosomal Abnormalities and AZF Microdeletions in Iranian Infertile Men and Their Significant Association

IF 2 4区医学 Q3 ANDROLOGY

Andrologia Pub Date : 2025-10-23 DOI:10.1155/and/6689096

Narges Taheri, Mahzad Nasir Shalal, Mahdi Mazloom, Diana Ghadiri, Pegah Ghandil

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引用次数: 0

Abstract

Objective

Chromosomal abnormalities participate in male infertility by affecting a variety of physiological functions including spermatogenesis, hormonal homoeostasis, and semen quality. The long arm of the Y chromosome has an important role in the procedure of spermatogenesis. Yq-microdeletions in AZFa, b, and c regions mean losing the genes handling the spermatogenesis process, which leads to defective sperm production. The aim of this study was to investigate the frequency and type of chromosomal abnormalities and AZF microdeletions in infertile men in the southwest of Iran. Also, we analyzed the association between chromosomal abnormalities and AZF microdeletions. Furthermore, we have carried out a comprehensive literature review on 35 studies performed in Middle East countries since 2000.

Methods

A total of 449 infertile men, 359 patients with azoospermia and 90 patients with oligozoospermia were enrolled in our study from 2021 to May 2024. Karyotype analysis in all patients and AZF microdeletion screening in azoospermic patients were applied using standard cytogenetic methods and multiplex polymerase chain reaction (PCR) method, respectively. Statistical analysis was carried out by SPSS.

Results

The prevalence of chromosomal abnormalities in our sample was 9.2% and 5.6% in azoospermic and oligozoospermic patients, respectively. AZF microdeletions were detected in 5% of azoospermic patients, which AZFc region was the most frequent deleted region in our study. Moreover, patients with chromosomal abnormalities indicated a significantly higher risk for occurrence of AZF microdeletions (p = 8 × 10⁻⁵). Further analysis showed a higher risk for incidence of AZF microdeletion in patients with Y-chromosome abnormality compared to patients with any other karyotype (p = 3.5 × 10⁻⁸).

Conclusion

The frequency of chromosomal abnormalities and AZF microdeletions are comparable with that found in Middle East countries. Karyotype test and AZF microdeletion analysis is highly recommended for infertile men prior to beginning treatment, helping to select the most appropriate assisted reproductive techniques.

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伊朗不育男性染色体异常和AZF微缺失的调查及其显著相关性

目的染色体异常通过影响精子发生、激素平衡和精液质量等多种生理功能参与男性不育。Y染色体的长臂在精子发生过程中起着重要作用。AZFa， b和c区域的yq微缺失意味着失去处理精子发生过程的基因，从而导致精子产生缺陷。本研究的目的是调查伊朗西南部不育男性染色体异常和AZF微缺失的频率和类型。此外，我们还分析了染色体异常与AZF微缺失之间的关系。此外，我们对2000年以来在中东国家进行的35项研究进行了全面的文献综述。方法从2021年至2024年5月，共纳入449名男性不育症患者、359名无精子症患者和90名少精子症患者。对所有患者进行核型分析，对无精子患者进行AZF微缺失筛查，分别采用标准细胞遗传学方法和多重聚合酶链反应（PCR）法。采用SPSS软件进行统计分析。结果无精症和少精症患者染色体异常发生率分别为9.2%和5.6%。在5%的无精子症患者中检测到AZF微缺失，其中AZFc区域是我们研究中最常见的缺失区域。此外，染色体异常的患者AZF微缺失的发生风险明显更高（p = 8 × 10−5）。进一步分析表明，与其他核型患者相比，y染色体异常患者AZF微缺失的发生率更高（p = 3.5 × 10−8）。结论染色体异常和AZF微缺失的频率与中东国家相当。强烈建议不育男性在开始治疗前进行核型试验和AZF微缺失分析，以帮助选择最合适的辅助生殖技术。

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来源期刊

Andrologia 医学-男科学

CiteScore

5.60

自引率

8.30%

发文量

292

审稿时长

6 months

期刊介绍： Andrologia provides an international forum for original papers on the current clinical, morphological, biochemical, and experimental status of organic male infertility and sexual disorders in men. The articles inform on the whole process of advances in andrology (including the aging male), from fundamental research to therapeutic developments worldwide. First published in 1969 and the first international journal of andrology, it is a well established journal in this expanding area of reproductive medicine.