Article Sidebar
Views pdf: 56
IMPACT OF MUTATIONS ON TEX GENES ON MALE INFERTILITY
Main Article Content
Abstract
Male infertility, particularly non-obstructive azoospermia (NOA), has become an increasingly concerning issue amidst the rising rates of infertility. Among the contributing factors, genetic causes play an important role, especially single-gene mutations in the TEX gene group (TEX11, TEX14, TEX15), which have been widely reported to be associated with NOA. This study aimed to investigate the association between TEX gene variants and the likelihood of sperm retrieval in testicular tissue of NOA patients. A total of 26 patients were recruited at Hanoi Medical University Hospital from 2022 to 2025. Whole-exome sequencing (WES) was performed to detect relevant genetic variants. Results revealed 19 high-risk genes associated with NOA in these patients, with the TEX gene group accounting for a significant proportion. Patients carrying mutations in TEX11, TEX14, or TEX15 exhibited histopathological patterns of maturation arrest or Sertoli cell-only syndrome, and no sperm was found during microTESE. Notably, the study identified a novel frameshift mutation in TEX11 and several high-risk variants in TEX14 and TEX15. These findings further clarify the role of TEX gene mutations in the pathogenesis of NOA and underscore the value of WES in genetic screening and prognostic counseling for men with idiopathic infertility.
Article Details
Keywords
Male infertility, non-obstructive azoospermia, genetic mutation, WES
References
2. Chiba K., Enatsu N., và Fujisawa M. (2016). Management of non‐obstructive azoospermia. Reprod Med Biol, 15(3), 165–173.
3. Boroujeni P.B., Sabbaghian M., Totonchi M. và cộng sự. (2018). Expression analysis of genes encoding TEX11, TEX12, TEX14 and TEX15 in testis tissues of men with non-obstructive azoospermia. JBRA assisted reproduction.
4. Cioppi F., Rosta V., và Krausz C. (2021). Genetics of Azoospermia. Int J Mol Sci, 22(6), 3264.
5. Fakhro K.A., Elbardisi H., Arafa M. và cộng sự. (2018). Point-of-care whole-exome sequencing of idiopathic male infertility. Genet Med, 20(11), 1365–1373.
6. Yatsenko A.N., Georgiadis A.P., Röpke A. và cộng sự. (2015). X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men. N Engl J Med, 372(22), 2097–2107.
7. Chen T., Wang Y., Tian L. và cộng sự. (2022). Aberrant Gene Expression Profiling in Men With Sertoli Cell-Only Syndrome. Front Immunol, 13, 821010.
8. Gershoni M., Hauser R., Yogev L. và cộng sự. (2017). A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes. Genetics in Medicine, 19(9), 998–1006.
9. Dinh T.H., Phuong Anh N., Thao D.H. và cộng sự. (2024). Single nucleotide polymorphisms of CFAP43 and TEX14 associated with idiopathic male infertility in a Vietnamese population. Medicine, 103(39), e39839.
10. Ruan J., He X.-J., Du W.-D. và cộng sự. (2012). Genetic Variants in TEX15 Gene Conferred Susceptibility to Spermatogenic Failure in the Chinese Han Population. Reprod Sci, 19(11), 1190–1196.