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<p>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.</p>

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Unraveling the human Y chromosome in male health: structural abnormalities and microdeletions with emerging clinical implications

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年12月17日

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  • Ferdos Ebrahim,
  • Ihsan Mahasneh,
  • Nada Maher Mahmoud

摘要

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.