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spermatogenic failure 43 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 43

MONDO:0032898

Also known as:SPGF43

Overview

GeneticsAutosomal recessive · SPEF2 (chr 5)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include always present findings: Absent sperm axoneme central pair complex. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Explore clinical features

Genetic Landscape

SPEF2 function has not been fully characterized.

Spermatogenic failure 43 is associated with mutations in the SPEF2 gene on chromosome 5.

Diagnosis

Genetic testing for SPEF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 43 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for spermatogenic failure 43.

6 publications have been identified in PubMed for spermatogenic failure 43. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (17%).

Recent Publications

de Oliveira SA (2026). [PMID: 41596343](https://pubmed.ncbi.nlm.nih.gov/41596343/). *Int J Mol Sci*. [Basic Science / Preclinical]
Balde-Camara A (2026). [PMID: 41706354](https://pubmed.ncbi.nlm.nih.gov/41706354/). *J Assist Reprod Genet*. [Case Report / Case Series]
Arbabi Dastgerd M (2026). [PMID: 41624734](https://pubmed.ncbi.nlm.nih.gov/41624734/). *Iran J Pathol*. [Basic Science / Preclinical]
Tan C (2026). [PMID: 41706353](https://pubmed.ncbi.nlm.nih.gov/41706353/). *J Assist Reprod Genet*. [Diagnostic / Biomarker]
Graziani A (2024). [PMID: 38790229](https://pubmed.ncbi.nlm.nih.gov/38790229/). *Genes (Basel)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618751

GARD

Genetic and Rare Diseases Info Center

GARD:18414

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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spermatogenic failure 43

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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