Skip to main content

ORIGINAL RESEARCH article

Front. Genet.
Sec. Human and Medical Genomics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1519774
This article is part of the Research Topic Genomic Insights into Reproductive Regulation: Advances in Male and Female Fertility Mechanisms View all articles

A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region

Provisionally accepted
Yuhong Zhao Yuhong Zhao 1,2*Weiwei Zhi Weiwei Zhi 3*Dongsheng Xiong Dongsheng Xiong 3*Ningjing Li Ningjing Li 4*Xinrong Du Xinrong Du 4*Jiuzhi Zeng Jiuzhi Zeng 3*Guohui Zhang Guohui Zhang 5*Weixin Liu Weixin Liu 1,2*
  • 1 College of Laboratory Medicine, Chengdu Medical College, Chengdu, Sichuan Province, China
  • 2 Key Laboratory of reproductive medicine, Sichuan Provincial Woman’s and Children’s Hospital / The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan Province, China
  • 3 Reproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital / The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan Province, China
  • 4 School of Medical and Life Sciences, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, China
  • 5 Key Laboratory of reproductive medicine; Reproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital / The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan Province, China

The final, formatted version of the article will be published soon.

    Usually, patients with sY84 or sY86 deficiency present with azoospermia, but recent studies have shown that some males with partial AZFa deletions, including sY84 or sY86, exhibit normal fertility. Here, we reported a rare case of AZF deletion in a family, where both father and son exhibited a deletion at the sY86 site in the AZFa region and a partial deletion in the AZFc region. Detection was performed using classical multiplex polymerase chain reaction and the "Male AZF Full-region Detection" Panel, revealing specific deletions in AZFa: Yq11.21 (14607372-14637973), 30.6kb; AZFc: Yq11.223-11.23 (25848831-27120665), 1.3M for the father; and Yq11. 223-11.23 (25505378-27120665), 1.6M for the son. Notably, although the son's sperm motility parameters showed no significant abnormalities, there was a history of failed pregnancies for twice, with sperm exhibiting a high rate of head defect. Given the complexities of the reproductive phenotype following AZF region deletions, additional extended genetic testing is necessary when partial deletions in the AZF region are detected, thus providing more accurate predictions of the spermatogenesis in patient. This study provides valuable insights and guidance for clinical decision-making and the implementation of assisted reproductive technologies in such cases.

    Keywords: Azoospermia Factor, sY86 deletion, Whole-exome sequencing, Y-chromosome microdeletions, Genetics

    Received: 30 Oct 2024; Accepted: 05 Dec 2024.

    Copyright: © 2024 Zhao, Zhi, Xiong, Li, Du, Zeng, Zhang and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Yuhong Zhao, College of Laboratory Medicine, Chengdu Medical College, Chengdu, 610500, Sichuan Province, China
    Weiwei Zhi, Reproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital / The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan Province, China
    Dongsheng Xiong, Reproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital / The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan Province, China
    Ningjing Li, School of Medical and Life Sciences, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, China
    Xinrong Du, School of Medical and Life Sciences, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan Province, China
    Jiuzhi Zeng, Reproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital / The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan Province, China
    Guohui Zhang, Key Laboratory of reproductive medicine; Reproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital / The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Chengdu, Sichuan Province, China
    Weixin Liu, College of Laboratory Medicine, Chengdu Medical College, Chengdu, 610500, Sichuan Province, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.