The frequency of Y-chromosome microdeletion among azoospermic males across Arab studies between 2014 and 2024: scoping review

Abstract

Background: Y-chromosome microdeletions (YCMD) are a major genetic cause of severe male infertility, particularly azoospermia. These deletions primarily occur within the azoospermia factor (AZF) region of the Y chromosome. Multiple studies have reported the frequency of YCMD among azoospermic males worldwide. While studies have investigated YCMD in specific Arab populations, no comprehensive review has examined its frequency across all Arab nationalities. This scoping review summarizes studies conducted in Arab countries between January 2014 and May 2024, which investigated the frequency of YCMD and the distribution of AZF deletion subtypes in Arab azoospermic males. Study design: A comprehensive literature review was conducted using PubMed, Scopus, and Google Scholar. Relevant studies were identified using specific keywords related to YCMD and azoospermia. Data were extracted on the frequency of YCMD and all reported AZF deletions among azoospermic males in Arab populations, with the most common deletions subsequently identified. Results: Out of 2901 screened studies, 20 from 9 Arab countries met the inclusion criteria. The reported frequency of YCMD among azoospermic males varied widely, ranging from 1.6 to 64%. The overall frequency was 10.3%. The AZFc deletion was the most commonly observed. These findings align with both global and regional data. Conclusion: The significant frequency of YCMD highlights the need to incorporate genetic screening into the routine diagnostic workup for azoospermic males in the Arab world. We strongly recommend large-scale genetic studies with standardized YCMD screening protocols to improve the understanding of male infertility genetics in the region. These findings have important clinical implications for infertility specialists and related healthcare professionals, gynecologists, in vitro fertilization clinics, and reproductive medicine specialists.