Zohdy Wael, Soliman Abdel Satar Mona, Moawad Hanan Hosny, Amer Medhat, GamalEl Din Sameh Fayek, Ragab Ahmed
Department of Andrology, Sexology and STIs, Faculty of Medicine, Cairo University, Cairo, Egypt.
Department of Andrology, Adam International Hospital, Giza, Egypt.
Andrology. 2025 Jul;13(5):1127-1136. doi: 10.1111/andr.70031. Epub 2025 Mar 27.
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.
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.
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.
本项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、精子获取率（SRR）和卵胞浆内单精子注射（ICSI）结局的影响。
对2015年至2020年间的2561名埃及男性进行回顾性评估。患者接受了不育评估，包括精液分析、激素评估、染色体核型分析，以及在适用时进行Y染色体微缺失分析。共对1541名个体进行了ICSI。
我们的队列包括1188名无精子症男性（46.4%）和457名精子浓度低于200万/mL的男性（17.8%）。2227名男性（87%）观察到正常男性核型（46, XY）。我们在224名男性（8.7%）中检测到克兰费尔特综合征（KF）。在110名男性（4.3%）中发现了除KF之外的其他染色体异常，分为与ICSI相容（N = 89）或不相容（N = 21）。核型正常男性的SRR为48.6%（336/692），而KF男性为26.0%（19/73）（P = 0.0003）。除KF外有异常的男性SRR为55.6%（15/27），高于KF男性（P = 0.0086）。正常核型的临床妊娠率为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形成率为11.9%，而KF为27%（p = 0.0001）。KF的受精率（FR）和着床率（IR）与相容异常者相当（FR：65.6%对70.7%；IR：18.8%对19.3%，P = 0.477，P = 0.530）。总睾酮（TT）水平在KF男性和其他异常男性中均不能区分或预测睾丸精子提取（TESE）结局。
本研究中作为严重男性不育原因的染色体异常发生率与国际和地中海地区报道的相似范围相符。KF患者较低的SRR反映了精子发生的受损。预计从KF男性中获取的精子与从染色体正常男性中收集的精子具有相同的FR、囊胚形成率（BR）和IR。然而，在辅助生殖技术咨询过程中，应向这些患者清楚解释其他染色体异常对ICSI结局的负面预后影响，尤其是低BR。
