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spermatogenic failure 1 (SPGF1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 1

MONDO:0009776

Also known as:SPGF1Oligochiasmatic infertilityOligosynaptic infertility

Overview

GeneticsAutosomal dominant · SYCP2 (chr 20)

OnsetADULT

ResearchLimited published research (4 articles)

Clinical Presentation

Features include always present findings: Male infertility and Oligozoospermia; and common findings: Cryptozoospermia.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Age of onset: adulthood.

Explore clinical features

Genetic Landscape

SYCP2 function has not been fully characterized.

Spermatogenic failure 1 is associated with mutations in the SYCP2 gene on chromosome 20.

Diagnosis

Genetic testing for SYCP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 common 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 1.

4 publications have been identified in PubMed for spermatogenic failure 1. Research spans Basic Science / Preclinical (75%) and Review / Meta-Analysis (25%).

Recent Publications

Benner L (2026). [PMID: 41739555](https://pubmed.ncbi.nlm.nih.gov/41739555/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Wang X (2025). [PMID: 41339899](https://pubmed.ncbi.nlm.nih.gov/41339899/). *Reproductive biology and endocrinology : RB&E*. [Review / Meta-Analysis]
Benner L (2025). [PMID: 40827275](https://pubmed.ncbi.nlm.nih.gov/40827275/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
La Y (2024). [PMID: 39126002](https://pubmed.ncbi.nlm.nih.gov/39126002/). *International journal of molecular sciences*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:258150

GARD

Genetic and Rare Diseases Info Center

GARD:15214

Questions for Your Care Team

→Should I pursue genetic testing for SYCP2, 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 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team