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spermatogenic failure 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 4

MONDO:0010052

Also known as:SYCP3 azoospermiaazoospermia caused by mutation in SYCP3spermatogenic failure type 4

Overview

Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene.

GeneticsAutosomal dominant · SYCP3 (chr 12)

Clinical Presentation

Features include always present findings: Male infertility and Azoospermia.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Explore clinical features

Genetic Landscape

SYCP3 function has not been fully characterized.

Spermatogenic failure 4 is associated with mutations in the SYCP3 gene on chromosome 12.

Diagnosis

Genetic testing for SYCP3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spermatogenic failure 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 4.

23 publications have been identified in PubMed for spermatogenic failure 4. Research spans Basic Science / Preclinical (83%), Epidemiology / Natural History (9%), and Diagnostic / Biomarker (4%).

Research Type	Count	% of Total
Laboratory research	19	83%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:270960

GARD

Genetic and Rare Diseases Info Center

GARD:15235

Questions for Your Care Team

→Should I pursue genetic testing for SYCP3, and what would the results mean for my family?
→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 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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