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male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

MONDO:0010617

Also known as:Sohval-Soffer syndromehypogonadism, MALE, with intellectual disability and skeletal anomalieshypogonadism, MALE, with mental retardation and skeletal anomalies

Overview

This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

Diagnosis

Biomarker and diagnostic research for male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome has been reported in the published literature.

Prognosis

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 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome.

11 publications have been identified in PubMed for male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome. Research spans Case Report / Case Series (55%), Review / Meta-Analysis (27%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Patient case studies	6	55%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:307500

Orphanet

European rare disease database

Orphanet:2234

GARD

Genetic and Rare Diseases Info Center

GARD:4899

Questions for Your Care Team

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male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications