The Role of Y-Chromosome Microdeletion Screening in Male Infertility

Introduction: Genetic disorders are a major cause of male infertility, with conditions like Klinefelter’s syndrome (KS) and Y-chromosome microdeletions responsible for ۱۰-۱۵% of azoospermia and severe oligozoospermia cases. Advances in genetic technologies have improved our understanding of infertility, enabling better diagnosis, prognosis, and treatment. Routine screening for Y-chromosome abnormalities, particularly AZF microdeletions, provides essential genetic information for Assisted Reproductive Technology (ART). Objectives: This study evaluates the effectiveness of screening for Y-chromosome impairments in infertile males. Early detection allows for appropriate treatment strategies, increasing the chances of fertility restoration. Methods: A literature review was conducted using PubMed, covering studies from ۱۹۹۸ to the present. Results: Infertility affects both men and women equally. Y-chromosome microdeletions are a leading cause of male infertility, with Yq deletions often leading to spermatogenic failure. In a study of ۳,۰۷۳ sterile men, ۵.۵% had oligozoospermia, while ۸.۳% had non-obstructive azoospermia. AZFa and AZFb deletions result in poor sperm retrieval outcomes, while AZFc deletions offer better chances for sperm retrieval and ART success. AZFc deletions occur in ۷-۱۰% of oligozoospermic and ۱۵-۲۰% of azoospermic men. The European Academy of Andrology recommends Y-chromosome screening for infertile men with sperm counts below ۵ million. Discussion: Genetic screening is crucial for diagnosing male infertility, guiding ART decisions, and informing genetic counseling. Early detection helps optimize treatment and prevents the transmission of deletions to offspring. Routine screening improves clinical outcomes and enhances reproductive planning.

کلیدواژه ها:

Male infertility ، Y-chromosome microdeletions