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spermatogenic failure 37 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 37

MONDO:0032744

Also known as:SPGF37

Overview

GeneticsAutosomal recessive · TTC21A (chr 3)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Irregularly shaped sperm tail, Coiled sperm flagella, Male infertility, and Reduced sperm motility and others.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Explore clinical features

Genetic Landscape

TTC21A function has not been fully characterized.

Spermatogenic failure 37 is associated with mutations in the TTC21A gene on chromosome 3.

Diagnosis

Genetic testing for TTC21A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 37 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features.

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 37.

6 publications have been identified in PubMed for spermatogenic failure 37. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (17%).

Recent Publications

Ruan J (2026). [PMID: 41596239](https://pubmed.ncbi.nlm.nih.gov/41596239/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Gao Y (2026). [PMID: 40847540](https://pubmed.ncbi.nlm.nih.gov/40847540/). *Human reproduction update*. [Review / Meta-Analysis]
Redouane S (2025). [PMID: 39841288](https://pubmed.ncbi.nlm.nih.gov/39841288/). *Molecular biology reports*. [Case Report / Case Series]
Chen Y (2025). [PMID: 41466333](https://pubmed.ncbi.nlm.nih.gov/41466333/). *Human genomics*. [Basic Science / Preclinical]
Yao W (2025). [PMID: 40376536](https://pubmed.ncbi.nlm.nih.gov/40376536/). *Translational andrology and urology*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618429

GARD

Genetic and Rare Diseases Info Center

GARD:18408

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 37

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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