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Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region


1 Department of Urology, Third Hospital of Peking University, Beijing 100089, China
2 Department of Andrology, Third Hospital of Peking University, Beijing 100089, China
3 Department of Human Sperm Bank, Third Hospital of Peking University, Beijing 100089, China

Correspondence Address:
Hui Jiang,
Department of Urology, Third Hospital of Peking University, Beijing 100089; Department of Andrology, Third Hospital of Peking University, Beijing 100089; Department of Human Sperm Bank, Third Hospital of Peking University, Beijing 100089
China
Wen-Hao Tang,
Department of Urology, Third Hospital of Peking University, Beijing 100089; Department of Andrology, Third Hospital of Peking University, Beijing 100089; Department of Human Sperm Bank, Third Hospital of Peking University, Beijing 100089
China
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aja2021130

PMID: 35259786

Spermatogenesis is regulated by several Y chromosome-specific genes located in a specific region of the long arm of the Y chromosome, the azoospermia factor region (AZF). AZF microdeletions are the main structural chromosomal abnormalities that cause male infertility. Assisted reproductive technology (ART) has been used to overcome natural fertilization barriers, allowing infertile couples to have children. However, these techniques increase the risk of vertical transmission of genetic defects. Despite widespread awareness of AZF microdeletions, the occurrence of de novo deletions and overexpression, as well as the expansion of AZF microdeletion vertical transmission, remains unknown. This review summarizes the mechanism of AZF microdeletion and the function of the candidate genes in the AZF region and their corresponding clinical phenotypes. Moreover, vertical transmission cases of AZF microdeletions, the impact of vertical inheritance on male fertility, and the prospective direction of research in this field are also outlined.


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    -  Deng CY
    -  Zhang Z
    -  Tang WH
    -  Jiang H
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