ReviewReproductive medicine and biology2020
Genetic disorders and male infertility.
Review in Reproductive medicine and biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors - A systematic review.Clinical and translational science · 2024Pooled it
- Correlation between reproductive hormone levels and genetic abnormalities in patients with non-obstructive azoospermia and oligospermia.Translational andrology and urology · 2026Article
- Syncytin-a deficiency compromises murine sperm function by suppressing PRL/PGE2 and PI3K/AKT/mTOR pathway.iScience · 2026Article
- From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss.Frontiers in genetics · 2026Article
- A Case Highlighting the Importance of Timely Intervention for a Male With AZFb + c Microdeletion.Case reports in genetics · 2026Article
- When Genetics Meet Hormones: Infertility and Normogonadotropic Hypogonadism From Robertsonian Translocation (14;21).Cureus · 2025Article
- Roles of human SPATA3 in cell proliferation and expression pattern ofMolecular medicine reports · 2025Article
- Chromosomal Abnormalities in Couples Experiencing Recurrent Implantation Failure in West of Iran: A Case-Control Study.Molecular genetics & genomic medicine · 2025Article
- Chromosome defects and male factor infertility.Fertility and sterility · 2025Review
- Prevalence and clinical considerations of Y chromosome microdeletions in azoospermic and oligozoopsermic infertile men from Al Madinah Al Munawarah, Saudi Arabia.Saudi medical journal · 2025Article
- Successful sperm retrieval by microdissection testicular sperm extraction in a man with partial AZFb deletion: a case report.Translational andrology and urology · 2025Article
- [Ring chromosome 21 syndrome: report of 2 cases].Revista medica del Instituto Mexicano del Seguro Social · 2025Article
- Do different male infertility factors impact embryological, cumulative pregnancy and neonatal outcomes in IVF/ICSI cycles? A retrospective cohort study.Human reproduction open · 2025Article
- Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring.Nature aging · 2024Review
- Eighteen genes primarily expressed in the testis are not required for male fertility in mice†.Biology of reproduction · 2024Article
- Spermatogonial stem cell technologies: applications from human medicine to wildlife conservation†.Biology of reproduction · 2024Review
- Male Fertility as a Proxy for Health.Journal of clinical medicine · 2024Review
- Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study.Journal of clinical medicine · 2024Article
- Interplay between male gonadal function and overall male health.Journal of basic and clinical physiology and pharmacology · 2024Review
- Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review.Frontiers in endocrinology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAt present, one out of six couples is infertile, and in 50% of cases, infertility is attributed to male infertility factors. Genetic abnormalities are found in 10%-20% of patients showing severe spermatogenesis disorders, including non-obstructive azoospermia.
methodsLiteratures covering the relationship between male infertility and genetic disorders or chromosomal abnormalities were studied and summarized. MAIN FINDINGS
resultsGenetic disorders, including Klinefelter syndrome, balanced reciprocal translocation, Robertsonian translocation, structural abnormalities in Y chromosome, XX male, azoospermic factor (AZF) deletions, and congenital bilateral absence of vas deferens were summarized and discussed from a practical point of view. Among them, understanding on AZF deletions significantly changed owing to advanced elucidation of their pathogenesis. Due to its technical progress, AZF deletion test can reveal their delicate variations and predict the condition of spermatogenesis. Thirty-nine candidate genes possibly responsible for azoospermia have been identified in the last 10 years owing to the advances in genome sequencing technologies.
conclusionGenetic testing for chromosomes and AZF deletions should be examined in cases of severe oligozoospermia and azoospermia. Genetic counseling should be offered before and after genetic testing.
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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.