ReviewInternational journal of molecular sciences2021
Genetics of Azoospermia.
Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
89 citing papers in PubMed, 5 syntheses or guidelines pooled it, 171 citations in OpenAlex.
- Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines.Andrology · 2026Guideline
- The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.Reproductive biology and endocrinology : RB&E · 2025Pooled it
- Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis.PloS one · 2025Pooled it
- Association between anti-Müllerian hormone concentrations and sperm retrieval outcomes in patients with idiopathic nonobstructive azoospermia: a systematic review and meta-analysis.Asian journal of andrology · 2024Pooled it
- Influence of Varicocelectomy on Assisted Reproductive Technology Outcomes of Infertile Patients with Varicocele: A Systematic Review and Meta-Analysis.American journal of men's healthPooled it
- Male reproductive phenotype in cystic fibrosis: comparison of existing animal models.Lab animal · 2026Review
- A Combined Approach: Karyotyping and QF-PCR for Comprehensive Genetic Screening in Male Infertility.Biochemical genetics · 2026Article
- SMC1A is required for fate determinations of human spermatogonial stem cells and male fertility by interacting with YBX1 and stabilizing HMGA2 mRNA via an mCell death and differentiation · 2026Article
- Non-Coding RNA Biomarkers in Male Infertility: From Discovery to Clinical Actionability-A Narrative Review.Genes · 2026Review
- Analysis of the Correlation Between Circulating Cell-Free DNA (CfDNA) Levels and Serious Abnormal Sperm Parameters.Current issues in molecular biology · 2026Article
- Whole-Genome Sequencing Identifies Potentially Causative Variants inInternational journal of molecular sciences · 2026Article
- Micro-TESE in Non-Obstructive Azoospermia: Phenotype-Guided Hormonal Optimization and Testosterone Response-Prognostic Biomarker or Therapeutic Target?Journal of clinical medicine · 2026Review
- Association of CLCA4 genetic variation with non-obstructive azoospermia and its potential interaction with Y-chromosome microdeletions.Molecular biology reports · 2026Article
- Biallelic variants in TBC1D8 are potentially associated with male infertility due to non-obstructive azoospermia or cryptozoospermia.Asian journal of andrology · 2026Article
- Whole-genome sequencing identifies a potentially causative homozygous splicing variant inInternational journal of reproductive biomedicine · 2026Article
- Gene set enrichment analysis of curated monogenic loci highlights key pathways and multisystem involvement in male infertility.Basic and clinical andrology · 2026Article
- Homozygous C12orf40 variant contributes to severe oligoasthenoteratozoospermia and sperm sex chromosome aneuploidy.Journal of assisted reproduction and genetics · 2026Article
- A novel loss-of-function mutation in MCMDC2 is associated with male infertility.Human genome variation · 2026Article
- Article
- Lived experiences of assisted reproductive technology treatment among men with azoospermia in Taiwan: a qualitative study.Reproductive health · 2026Article
29 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Azoospermia affects 1% of men, and it can be due to: (i) hypothalamic-pituitary dysfunction, (ii) primary quantitative spermatogenic disturbances, (iii) urogenital duct obstruction. Known genetic factors contribute to all these categories, and genetic testing is part of the routine diagnostic workup of azoospermic men. The diagnostic yield of genetic tests in azoospermia is different in the different etiological categories, with the highest in Congenital Bilateral Absence of Vas Deferens (90%) and the lowest in Non-Obstructive Azoospermia (NOA) due to primary testicular failure (~30%). Whole-Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate genes. These genes are of potential clinical relevance for future gene panel-based screening. We classified these genes according to the associated-testicular histology underlying the NOA phenotype. The validation and the discovery of novel NOA genes will radically improve patient management. Interestingly, approximately 37% of candidate genes are shared in human male and female gonadal failure, implying that genetic counselling should be extended also to female family members of NOA patients.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.