A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region
IntroductionUsually, 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 exhib...
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Frontiers Media S.A.
2025-01-01
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1519774/full |
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| author | Yuhong Zhao Weiwei Zhi Weiwei Zhi Dongsheng Xiong Dongsheng Xiong Ningjing Li Xinrong Du Jiuzhi Zeng Jiuzhi Zeng Guohui Zhang Guohui Zhang Weixin Liu Weixin Liu |
| author_facet | Yuhong Zhao Weiwei Zhi Weiwei Zhi Dongsheng Xiong Dongsheng Xiong Ningjing Li Xinrong Du Jiuzhi Zeng Jiuzhi Zeng Guohui Zhang Guohui Zhang Weixin Liu Weixin Liu |
| author_sort | Yuhong Zhao |
| collection | DOAJ |
| description | IntroductionUsually, 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.Methods and ResultsDetection was performed using classical multiplex polymerase chain reaction and the “Male AZF Full-region Detection” Panel, revealing specific deletions in AZFa: Yq11.21 (14,607,372–14,637,973), 30.6 kb; AZFc: Yq11.223–11.23 (25,848,831–27,120,665), 1.3 M for the father; and Yq11.223–11.23 (25,505,378–27,120,665), 1.6 M 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.DiscussionGiven 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. |
| format | Article |
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| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-96140f2ecc99497280d458bd446305a22025-01-09T06:10:12ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-01-011510.3389/fgene.2024.15197741519774A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc regionYuhong Zhao0Weiwei Zhi1Weiwei Zhi2Dongsheng Xiong3Dongsheng Xiong4Ningjing Li5Xinrong Du6Jiuzhi Zeng7Jiuzhi Zeng8Guohui Zhang9Guohui Zhang10Weixin Liu11Weixin Liu12The Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaThe Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaReproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaThe Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaReproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaSchool of Medicine and life sciences, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, ChinaSchool of Medicine and life sciences, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, ChinaThe Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaReproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaThe Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaReproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaThe Affiliated Women’s and Children’s Hospital of Chengdu Medical College, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaReproductive Medicine Center, Sichuan Provincial Woman’s and Children’s Hospital, Chengdu, ChinaIntroductionUsually, 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.Methods and ResultsDetection was performed using classical multiplex polymerase chain reaction and the “Male AZF Full-region Detection” Panel, revealing specific deletions in AZFa: Yq11.21 (14,607,372–14,637,973), 30.6 kb; AZFc: Yq11.223–11.23 (25,848,831–27,120,665), 1.3 M for the father; and Yq11.223–11.23 (25,505,378–27,120,665), 1.6 M 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.DiscussionGiven 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.https://www.frontiersin.org/articles/10.3389/fgene.2024.1519774/fullazoospermia factorsY86 deletionwhole-exome sequencingY-chromosome microdeletionsgenetics |
| spellingShingle | Yuhong Zhao Weiwei Zhi Weiwei Zhi Dongsheng Xiong Dongsheng Xiong Ningjing Li Xinrong Du Jiuzhi Zeng Jiuzhi Zeng Guohui Zhang Guohui Zhang Weixin Liu Weixin Liu A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region Frontiers in Genetics azoospermia factor sY86 deletion whole-exome sequencing Y-chromosome microdeletions genetics |
| title | A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region |
| title_full | A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region |
| title_fullStr | A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region |
| title_full_unstemmed | A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region |
| title_short | A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region |
| title_sort | family with normal sperm motility carrying a sy86 deletion in azfa region and partial deletion in azfc region |
| topic | azoospermia factor sY86 deletion whole-exome sequencing Y-chromosome microdeletions genetics |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2024.1519774/full |
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