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This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.
Biomarker and diagnostic research for hypogonadism-mitral valve prolapse-intellectual disability syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for hypogonadism-mitral valve prolapse-intellectual disability syndrome.
126 publications have been identified in PubMed for hypogonadism-mitral valve prolapse-intellectual disability syndrome. Research spans Review / Meta-Analysis (62%), Basic Science / Preclinical (17%), and Case Report / Case Series (9%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 66 | 62% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
18 |
17% |
Patient case studies | 10 | 9% |
Disease patterns and progression | 9 | 8% |
Testing and diagnosis research | 2 | 2% |
Clinical study results | 2 | 2% |
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Diagnostic / Biomarker]
Hart SA (2026). [PMID: 41457053](https://pubmed.ncbi.nlm.nih.gov/41457053/). *Mol Genet Genomic Med*. [Epidemiology / Natural History]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Fukumoto Y (2026). [PMID: 41849658](https://pubmed.ncbi.nlm.nih.gov/41849658/). *Eur J Prev Cardiol*. [Review / Meta-Analysis]
Cheong I (2026). [PMID: 42083064](https://pubmed.ncbi.nlm.nih.gov/42083064/). *J Clin Ultrasound*. [Case Report / Case Series]
Kubiszewski H (2026). [PMID: 41904990](https://pubmed.ncbi.nlm.nih.gov/41904990/). *Adv Clin Exp Med*. [Review / Meta-Analysis]
Gorbachevsky SV (2025). [PMID: 39975860](https://pubmed.ncbi.nlm.nih.gov/39975860/). *Indian J Thorac Cardiovasc Surg*. [Case Report / Case Series]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
AI-curated news mentioning hypogonadism-mitral valve prolapse-intellectual disability syndrome
Updated Dec 11, 2025
The FDA has issued a request for information regarding testosterone replacement therapy for men, seeking input from the public and stakeholders. This initiative aims to gather perspectives that will inform future regulatory considerations.