• Saudi Med J · Feb 2025

    Prevalence and clinical considerations of Y chromosome microdeletions in azoospermic and oligozoopsermic infertile men from Al Madinah Al Munawarah, Saudi Arabia.

    • Monis B Shamsi, Rima Dada, Reham M Balahmar, Dimah Zaytuni, Ghadeer Alharbi, Syed N Imam, Emad Rajih, Muhammad Latif, and Saif Ahmad.
    • From the Center for Genetics and Inherited Diseases (Shamsi, Balahmar, Zaytuni, Alharbi, Latif); from the Department of Basic Medical Sciences (Shamsi, Imam, Latif); from the Department of General and Specialized Surgery (Rajih), College of Medicine, Taibah University, Al-Madinah Al-Munawarah, Kingdom of Saudi Arabia, from the Department of Anatomy (Dada), Laboratory of Molecular Reproduction & Genetics, All India Institute of Medical Sciences, New Delhi, India, and from the Department of Translational Neuroscience (Ahmad), Barrow Neurological Institute, Phoenix, United States of America.
    • Saudi Med J. 2025 Feb 1; 46 (2): 124130124-130.

    ObjectivesTo characterize the potential role of Y-chromosome microdeletion (YCM) as a genetic cause for infertility in the Arab population from the Al Madinah Al Munawarah.MethodsWe screened 97 infertile men from Al Madinah Al Munawarah, from February 2022 to March 2024. Genomic blood DNA was analyzed for 8 sequence tagged site (STS) markers of Y chromosome by multiplex polymerase chain reaction.ResultsWe found microdeletions in 3 infertile men, indicating a prevalence of 3.1%. The STS markers sY254 and sY255 corresponding to AZFc regions were deleted in these men. No deletion was observed in any other STS markers investigated in this study.ConclusionOur findings for prevalence in Arab population of Al Madinah Al Munawarah is comparable to other studies from Saudi Arabia. However, large variance in the prevalence of YCM in the Arab population of other Middle Eastern countries is reportedly observed. The YCM has significant prognostic value, since it indicates the spermatogenic profile, the success probability of assisted reproduction technique (ART) procedures as testicular sperm extraction and apprise of potential risk of vertical transmission of microdeletion from father to son in patients opting for ART. With these considerations, we re-emphasize the need for genetic screening of YCM in azoo- and oligozoospermic infertile men.Copyright: © Saudi Medical Journal.

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