Intact spermatogenesis in an azoospermic patient with AZFa (sY84 and sY86) microdeletion and a homozygous TG12-5T variant in CFTR
This case expands the intricate genetic spectrum of azoospermia by illustrating the critical role of DDX3Y in the AZFa region in spermatogenesis and the variable penetrance of CFTR variant (TG12-5T) in CBAVD. These insights may refine diagnostic strategies and underscore the necessity for tailored fertility management in individuals with multifactorial genetic anomalies.
Authors
- Beifen Zhong
- Chencheng Yao (ORCID: https://orcid.org/0000-0002-8820-7895)
- Zizhou Meng (ORCID: https://orcid.org/0009-0009-6677-6171)
- Zheng Li (ORCID: https://orcid.org/0000-0002-3188-8300)
- Yuxiang Zhang (ORCID: https://orcid.org/0009-0002-6643-2693)
- Yifan Sun (ORCID: https://orcid.org/0000-0002-1409-6520)
Institutions
- Shanghai Mental Health Center (CN)
- Nanjing Medical University (CN)
Publication Details
- Journal
- Basic and Clinical Andrology
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1186/s12610-025-00260-7
- Citations
- 1
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- National Natural Science Foundation of China
- National Key Research and Development Program of China