Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

deafness-hypogonadism syndrome (DHS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deafness-hypogonadism syndrome

MONDO:0010575

Also known as:DHS

Overview

This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.

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 very common findings: Stapes ankylosis, Conductive hearing impairment, Progressive sensorineural hearing impairment, and Hypergonadotropic hypogonadism and others; and common findings: Atypical behavior. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	4	Conductive hearing impairment, Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct

Diagnosis

Biomarker and diagnostic research for deafness-hypogonadism syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 very common features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 deafness-hypogonadism syndrome.

134 publications have been identified in PubMed for deafness-hypogonadism syndrome. Research spans Review / Meta-Analysis (67%), Basic Science / Preclinical (13%), and Case Report / Case Series (8%).

Research Type	Count	% of Total
Research summaries	90	67%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:304350

Orphanet

European rare disease database

Orphanet:90646

GARD

Genetic and Rare Diseases Info Center

GARD:1691

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

deafness-hypogonadism syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

deafness-hypogonadism syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications