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hypergonadotropic hypogonadism-cataract syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypergonadotropic hypogonadism-cataract syndrome

MONDO:0009417

Also known as:Lubinsky syndromecataracts and testicular failurehypogonadism cataract syndrome

Overview

This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.

GeneticsAutosomal recessive

ResearchLimited published research (6 articles)

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: Cataract, Elevated circulating follicle stimulating hormone level, Infertility, and Male hypogonadism and 1 more.

Organ System	Phenotype Count	Example Features
Hormones	3	Infertility, Male hypogonadism, Hypogonadism
Eyes

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 hypergonadotropic hypogonadism-cataract syndrome.

6 publications have been identified in PubMed for hypergonadotropic hypogonadism-cataract syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (17%).

Recent Publications

Buchignani B (2026). [PMID: 41897072](https://pubmed.ncbi.nlm.nih.gov/41897072/). *Children (Basel, Switzerland)*. [Review / Meta-Analysis]
Waskow ER (2025). [PMID: 39166428](https://pubmed.ncbi.nlm.nih.gov/39166428/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Fakih H (2025). [PMID: 41523402](https://pubmed.ncbi.nlm.nih.gov/41523402/). *Cureus*. [Case Report / Case Series]
Venema M (2025). [PMID: 39552268](https://pubmed.ncbi.nlm.nih.gov/39552268/). *Clinical genetics*. [Case Report / Case Series]
Zhang Y (2025). [PMID: 40696433](https://pubmed.ncbi.nlm.nih.gov/40696433/). *Human genomics*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:240950

Orphanet

European rare disease database

Orphanet:2410

GARD

Genetic and Rare Diseases Info Center

GARD:298

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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hypergonadotropic hypogonadism-cataract syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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