Middle East Fertility Society Journal · Published 2025-12-17 · DOI 10.1186/s43043-025-00288-9
Abstract The human Y chromosome has traditionally been viewed as a gene-poor chromosome, primarily relevant to male reproductive health. However, recent evidence challenges this narrow perspective. This narrative review explores the Y chromosome’s unique structure, evolution, and functional relevance, with a particular focus on the azoospermia factor (AZF) regions and their associated genes. We examine how microdeletions in these regions, along with Y chromosome abnormalities, contribute to male infertility and discuss the underlying genetic mechanisms. Beyond reproduction, emerging evidence connects Y-linked variation and loss of Y (LOY) to cardiometabolic disorders and cancer. In addition, we highlight the importance of current diagnostic techniques used to detect Y chromosome abnormalities, including molecular and cytogenetic methods for infertility diagnosis. Understanding the Y chromosome’s genetic landscape is essential not only for accurate diagnosis but also for advancing precision medicine, forensic genetics, and potential gene-based interventions.
Abstract from DOAJ. Public domain (CC0 1.0).
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