Prevalence of Y chromosome microdeletions of the azoospermia factor region among Libyan men with infertility.

Abstract

The detection of Y chromosome microdeletions (YCMDs) in the azoospermia factor (AZF) region is a critical diagnostic tool for male infertility. The present study aimed to determine the prevalence of YCMDs among Libyan men with infertility following the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) guidelines. The present descriptive cross-sectional study included 41 men with infertility, stratified into two primary groups for comparative analysis: One group with azoospermia (n=23) and a non-azoospermia group (n=18). Genetic screening for AZFa, AZFb and AZFc microdeletions was performed using multiplex PCR with standardized sequence-tagged site primers (sY84, sY127, sY254, sY86, sY134 and sY255). Hormonal profiles, including follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T) and prolactin (PRL), as well as their ratios, were evaluated. The overall prevalence of YCMDs was 2.44% (1/41; 95% confidence interval, 0.06-12.79%). A single case of a complete AZFb+c microdeletion was identified in a patient with azoospermia. The azoospermia group exhibited significantly higher mean FSH (P<0.001) and LH levels (P<0.01) than those of the non-azoospermia group. The azoospermia group demonstrated a suppressed LH/FSH ratio (0.61) and a reduced T/LH ratio (0.37), indicating testicular failure and compensated Leydig cell dysfunction, respectively. To the best of our knowledge, the present study represents the first investigation in Tripoli, Libya, to report the prevalence of YCMDs in accordance with the EAA/EMQN international standards. Future large-scale, multicenter studies incorporating larger cohorts, fertile control groups, and broader geographic representations, are essential to establish a comprehensive genetic landscape of male infertility in Libya.