ArticleAsian journal of andrology
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure.
Article in Asian journal of andrology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 41 citations in OpenAlex.
- The intersection of disorders of sex development and cardiovascular diseases.Biology of sex differences · 2026Review
- Mechanism and potential therapeutic strategies of genetic abnormalities involved in deoxyribonucleic acid double-strand breaks leading to the development of human non-obstructive azoospermia.Reproductive biology and endocrinology : RB&E · 2026Review
- Mutation Severity ofHuman mutation · 2026Article
- Is the TEX11-.652del237bp Exonic In-Frame Deletion Variant Associated with Azoospermia? The Results of anGenes · 2025Article
- Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.EBioMedicine · 2025Article
- IGF2BP1/HMOX1 Mediates Fate Determinations of Human Spermatogonial Stem Cells and Male Infertility via an m6A-Dependent Manner.Research (Washington, D.C.) · 2025Article
- Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.Human reproduction open · 2025Article
- Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.Orphanet journal of rare diseases · 2024Article
- Article
- The Andrological Landscape in the Twenty-First Century: Making Sense of the Advances in Male Infertility Management for the Busy Clinicians.International journal of environmental research and public health · 2024Review
- Review
- Oxidative Stress Biomarkers in Male Infertility: Established Methodologies and Future Perspectives.Genes · 2024Review
- A partial deletion within the meiosis-specific sporulation domain SPO22 of Tex11 is not associated with infertility in mice.PloS one · 2024Article
- The construction of a testis transcriptional cell atlas from embryo to adult reveals various somatic cells and their molecular roles.Journal of translational medicine · 2023Article
- Productivity Index in Clinical Andrology: Research Directions on High-Impact Topics and in Particular on Male Infertility.Journal of clinical medicine · 2023Article
- Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice†.Biology of reproduction · 2023Article
- The Renaissance of Male Infertility Management in the Golden Age of Andrology.The world journal of men's health · 2023Review
- Analysis of 29 Targeted Genes for Non-Obstructive Azoospermia: The Relationship between Genetic Testing and Testicular Histology.The world journal of men's health · 2023Article
- Genomic study ofFrontiers in genetics · 2023Article
- NovelAsian journal of andrology · 2023Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A large proportion of patients with idiopathic spermatogenic failure (SPGF; oligozoospermia or nonobstructive azoospermia [NOA]) do not receive a diagnosis despite an extensive diagnostic workup. Recent evidence has shown that the etiology remains undefined in up to 75% of these patients. A number of genes involved in germ-cell proliferation, spermatocyte meiotic divisions, and spermatid development have been called into play in the pathogenesis of idiopathic oligozoospermia or NOA. However, this evidence mainly comes from case reports. Therefore, this study was undertaken to identify the molecular causes of SPGF. To accomplish this, 15 genes (USP9Y, NR5A1, KLHL10, ZMYND15, PLK4, TEX15, TEX11, MEIOB, SOHLH1, HSF2, SYCP3, TAF4B, NANOS1, SYCE1, and RHOXF2) involved in idiopathic SPGF were simultaneously analyzed in a cohort of 25 patients with idiopathic oligozoospermia or NOA, accurately selected after a thorough diagnostic workup. After next-generation sequencing (NGS) analysis, we identified the presence of rare variants in the NR5A1 and TEX11 genes with a pathogenic role in 3/25 (12.0%) patients. Seventeen other different variants were identified, and among them, 13 have never been reported before. Eleven out of 17 variants were likely pathogenic and deserve functional or segregation studies. The genes most frequently mutated were MEIOB, followed by USP9Y, KLHL10, NR5A1, and SOHLH1. No alterations were found in the SYCP3, TAF4B, NANOS1, SYCE1, or RHOXF2 genes. In conclusion, NGS technology, by screening a specific custom-made panel of genes, could help increase the diagnostic rate in patients with idiopathic oligozoospermia or NOA.
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