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

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.