Genetic anomalies in infertile Egyptian men and their impact on sperm retrieval rates and intracytoplasmic sperm injection outcome: A retrospective cohort study

IF 3.4 2区医学 Q1 ANDROLOGY Andrology Pub Date : 2025-03-27 DOI:10.1111/andr.70031

Wael Zohdy, Mona Soliman Abdel Satar, Hanan Hosny Moawad, Medhat Amer, Sameh Fayek GamalEl Din, Ahmed Ragab

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Abstract

Background and objectives

The current retrospective study aimed to investigate the frequency and types of chromosomal abnormalities among a group of infertile men, as well as their impact on semen parameters, sperm retrieval rates (SRR), and intracytoplasmic sperm injection (ICSI) outcomes.

Materials and methods

Two thousand five hundred sixty-one Egyptian men were retrospectively evaluated between 2015 and 2020. Patients underwent infertility assessment, including semen analysis, hormonal evaluation, karyotyping, and, when applicable, Y chromosome microdeletion analysis. ICSI was conductedon a total of 1541 individuals.

Results

Our cohort included 1188 men with azoospermia (46.4%), and 457 having sperm concentrations less than 2 million/mL (17.8%). A normal male karyotype (46, XY) was observed in 2227 men (87%). We detected Klinefelter syndrome (KF) in 224 men (8.7%). Other chromosomal abnormalities, excluding KF, were identified in 110 men (4.3%), classified as compatible (N = 89) or incompatible (N = 21) with ICSI. The SRR for men with normal karyotypes was 48.6% (336/692), compared to 26.0% (19/73) for men with KF (P = 0.0003). Men with anomalies other than KF had a higher SRR of 55.6% (15/27) than those with KF (P = 0.0086). Clinical pregnancy rates were 44.1% for normal karyotypes, 33.3% for KF, and 32.3% for compatible chromosomal abnormalities (p > 0.05).The blastulation rate for men with compatible chromosomal abnormalities was 11.9%, while it was 27% for KF (p = 0.0001). Fertilization (FR) and implantation rates (IR) for KF were comparable to those with compatible abnormalities (FR: 65 .6% vs. 70.7%; IR: 18 .8% vs. 19.3%, P = 0.477, P = 0.530). The total testosterone (TT) level did not discriminate or predict testicular sperm extraction (TESE) outcome in men with KF and in men with other anomalies.

Discussion & conclusion

The incidence of chromosomal abnormalities as a cause of severe male infertility in this study is within the similar range reported internationally and in the Mediterranean region. The impairment of spermatogenesis is reflected by the lower SRR in KF patients. Spermatozoa retrieved from men with KF are expected to yield the same FR, blastulation rate (BR), and IR as those collected from men with a normal set of chromosomes. However, the negative prognostic effects of other chromosomal abnormalities on ICSI outcomes, especially low BR, should be clearly explained to these patients during counseling for assisted reproductive techniques.

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埃及不育男性的遗传异常及其对精子回收率和卵胞浆内单精子注射结果的影响：一项回顾性队列研究。

背景和目的：本回顾性研究旨在调查一组不育男性中染色体异常的频率和类型，以及它们对精液参数、精子回收率（SRR）和胞浆内单精子注射（ICSI）结果的影响。材料和方法：2015年至2020年期间，回顾性评估了2,561名埃及男性。患者接受不孕症评估，包括精液分析、激素评估、核型分析，并在适用时进行Y染色体微缺失分析。共对1541例患者进行了ICSI。结果：我们的队列包括1188名无精子症男性（46.4%），457名精子浓度低于200万/mL（17.8%）。2227例（87%）男性核型为正常（46，XY）。我们在224例（8.7%）男性中检测到克氏综合征（KF）。除KF外，在110名男性（4.3%）中发现其他染色体异常，分类为与ICSI相容（N = 89）或不相容（N = 21）。正常核型男性的SRR为48.6%(336/692)，而KF男性的SRR为26.0% (19/73)（P = 0.0003）。非KF异常男性的SRR为55.6%(15/27)，高于KF异常男性（P = 0.0086）。临床妊娠率正常核型为44.1%，KF为33.3%，相容染色体异常为32.3% （p < 0.05）。相容染色体异常男性的囊胚率为11.9%，而KF为27% （p = 0.0001）。KF的受精（FR）和着床率（IR）与兼容异常的患者相当(FR: 65.6% vs. 70.7%；IR: 18.8% vs. 19.3%, P = 0.477, P = 0.530)。总睾酮（TT）水平不能区分或预测KF男性和其他异常男性的睾丸精子提取（TESE）结果。讨论与结论：本研究中染色体异常作为严重男性不育原因的发生率与国际上和地中海地区报道的相似。精子发生障碍反映在KF患者较低的SRR上。从患有KF的男性身上提取的精子预计会产生与从具有正常染色体的男性身上收集的精子相同的FR、囊胚率（BR）和IR。然而，其他染色体异常对ICSI结果的负面影响，特别是低BR，应该在辅助生殖技术咨询时向这些患者清楚地解释。

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

Andrology ANDROLOGY-

CiteScore

9.10

自引率

6.70%

发文量

200

期刊介绍： Andrology is the study of the male reproductive system and other male gender related health issues. Andrology deals with basic and clinical aspects of the male reproductive system (gonads, endocrine and accessory organs) in all species, including the diagnosis and treatment of medical problems associated with sexual development, infertility, sexual dysfunction, sex hormone action and other urological problems. In medicine, Andrology as a specialty is a recent development, as it had previously been considered a subspecialty of urology or endocrinology