Prevalence and spectrum of AZFc copy number variations in infertile Moroccan men

Abstract

Objective: Infertility affects approximately 10% to 15% of couples attempting to conceive, with a male factor contributing to nearly half of these cases. The most common molecular abnormality associated with male infertility is Y-chromosome microdeletion (YCM), which involves deletions in the azoospermia factor (AZF) regions-gene clusters essential for spermatogenesis. This study aimed to determine the prevalence of YCM among infertile Moroccan men and to assess the effectiveness of multiplex ligation-dependent probe amplification (MLPA) for Y-chromosome analysis in this context. Methods: A cohort of 41 infertile Moroccan men diagnosed with either severe oligozoospermia (n=16) or azoospermia (n=25) underwent comprehensive clinical, paraclinical, and molecular analysis of the AZF regions using the MLPA technique. An additional 20 normozoospermic men were included as control subjects. Results: AZFc microdeletions and duplications were identified in 12% and 7% of patients, respectively. No deletions were detected in the AZFa or AZFb regions, nor in the control group. The overall prevalence of YCM in this cohort is consistent with that reported in other Moroccan studies. However, to our knowledge, the complete copy number variation (CNV) profile of the Y-chromosome-including duplications-has not been previously investigated in the Moroccan population. Conclusion: This study identified a 19% prevalence of CNVs restricted to the AZFc region among infertile Moroccan men, underscoring its specific association with severe spermatogenic failure. MLPA demonstrated high accuracy, reproducibility, and cost-effectiveness for CNV detection. These findings support the implementation of MLPA as a routine genetic diagnostic and counseling tool for men with significant sperm abnormalities.