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spermatogenic failure 32 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spermatogenic failure 32

MONDO:0020855

Also known as:SPGF32

Overview

GeneticsAutosomal dominant · SOHLH1 (chr 9)

ResearchLimited published research (7 articles)

Clinical Presentation

Features include always present findings: Male infertility, Sertoli cell-only phenotype, and Non-obstructive azoospermia.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Explore clinical features

Genetic Landscape

SOHLH1 function has not been fully characterized.

Spermatogenic failure 32 is associated with mutations in the SOHLH1 gene on chromosome 9.

Diagnosis

Genetic testing for SOHLH1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 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 32.

7 publications have been identified in PubMed for spermatogenic failure 32. Research spans Basic Science / Preclinical (43%), Epidemiology / Natural History (29%), and Review / Meta-Analysis (14%).

Recent Publications

Noor AA (2026). [PMID: 41271156](https://pubmed.ncbi.nlm.nih.gov/41271156/). *Parasitol Int*. [Epidemiology / Natural History]
Wen X (2025). [PMID: 39950040](https://pubmed.ncbi.nlm.nih.gov/39950040/). *Front Genet*. [Case Report / Case Series]
Barka I (2025). [PMID: 40169148](https://pubmed.ncbi.nlm.nih.gov/40169148/). *Biol Reprod*. [Basic Science / Preclinical]
Abroudi AS (2025). [PMID: 40537735](https://pubmed.ncbi.nlm.nih.gov/40537735/). *Reprod Sci*. [Basic Science / Preclinical]
Squillacioti C (2025). [PMID: 41295684](https://pubmed.ncbi.nlm.nih.gov/41295684/). *Vet Sci*. [Review / Meta-Analysis]
Wang Z (2024). [PMID: 38953252](https://pubmed.ncbi.nlm.nih.gov/38953252/). *Development*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 3:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618115

GARD

Genetic and Rare Diseases Info Center

GARD:16292

Questions for Your Care Team

→Should I pursue genetic testing for SOHLH1, 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 32

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