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This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.
Biomarker and diagnostic research for hypogonadotropic hypogonadism-retinitis pigmentosa syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for hypogonadotropic hypogonadism-retinitis pigmentosa syndrome.
161 publications have been identified in PubMed for hypogonadotropic hypogonadism-retinitis pigmentosa syndrome. Research spans Review / Meta-Analysis (63%), Basic Science / Preclinical (12%), and Epidemiology / Natural History (9%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 102 | 63% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:50 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
20 |
12% |
Disease patterns and progression | 14 | 9% |
Patient case studies | 12 | 7% |
Testing and diagnosis research | 6 | 4% |
Other research | 5 | 3% |
Clinical study results | 2 | 1% |
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology*. [Review / Meta-Analysis]
Sebode M (2026). [PMID: 41432137](https://pubmed.ncbi.nlm.nih.gov/41432137/). *Current opinion in gastroenterology*. [Review / Meta-Analysis]
Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *American journal of human genetics*. [Basic Science / Preclinical]
M R R (2026). [PMID: 41815617](https://pubmed.ncbi.nlm.nih.gov/41815617/). *Cureus*. [Case Report / Case Series]
Sridhar S (2025). [PMID: 40181855](https://pubmed.ncbi.nlm.nih.gov/40181855/). *Indian journal of endocrinology and metabolism*. [Case Report / Case Series]
Molteni R (2025). [PMID: 40195449](https://pubmed.ncbi.nlm.nih.gov/40195449/). *Nature medicine*. [Basic Science / Preclinical]