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, Saif Ahmad
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Abstract
Objectives: To 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.
Methods: We 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.
Results: We 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.
Conclusion: Our 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.
沙特阿拉伯Al Madinah Al Munawarah无精子和少精子不育男性Y染色体微缺失的患病率和临床考虑。
目的：表征y染色体微缺失（YCM）作为来自Al Madinah Al Munawarah的阿拉伯人群不孕症的遗传原因的潜在作用。方法：从2022年2月至2024年3月，我们筛选了来自Al Madinah Al Munawarah的97名不育男性。采用多重聚合酶链反应对8个Y染色体序列标记位点（STS）进行基因组血DNA分析。结果：我们在3名不育男性中发现了微缺失，表明患病率为3.1%。与AZFc区域对应的STS标记sY254和sY255在这些男性中被删除。本研究中未发现其他STS标记缺失。结论：我们关于Al Madinah Al Munawarah在阿拉伯人群中的患病率的发现与沙特阿拉伯的其他研究相当。然而，据报道，在其他中东国家的阿拉伯人口中，YCM的患病率存在很大差异。YCM具有重要的预后价值，因为它表明了生精情况，辅助生殖技术（ART）手术（如睾丸精子提取）的成功率，以及选择ART的患者父亲向儿子垂直传播微缺失的潜在风险。考虑到这些因素，我们再次强调需要在azoo和少精子不育男性中进行YCM遗传筛查。
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The Saudi Medical Journal is a monthly peer-reviewed medical journal. It is an open access journal, with content released under a Creative Commons attribution-noncommercial license.
The journal publishes original research articles, review articles, Systematic Reviews, Case Reports, Brief Communication, Brief Report, Clinical Note, Clinical Image, Editorials, Book Reviews, Correspondence, and Student Corner.
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