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cortisone reductase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cortisone reductase deficiency

MONDO:0000193

Also known as:11-beta-hydroxysteroid dehydrogenase deficiency type 1CORTRDdeficiency of (R)-20-hydroxysteroid dehydrogenase

Overview

A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.

ResearchLimited published research (6 articles)

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 cortisone reductase deficiency.

6 publications have been identified in PubMed for cortisone reductase deficiency. Research spans Basic Science / Preclinical (50%), Epidemiology / Natural History (33%), and Review / Meta-Analysis (17%).

Recent Publications

Brossaud J (2026). [PMID: 41499274](https://pubmed.ncbi.nlm.nih.gov/41499274/). *Journal of neuroendocrinology*. [Basic Science / Preclinical]
Kawai H (2026). [PMID: 40990870](https://pubmed.ncbi.nlm.nih.gov/40990870/). *The International journal of eating disorders*. [Basic Science / Preclinical]
Xu QY (2026). [PMID: 42199346](https://pubmed.ncbi.nlm.nih.gov/42199346/). *Mil Med Res*. [Review / Meta-Analysis]
Dong W (2025). [PMID: 40030011](https://pubmed.ncbi.nlm.nih.gov/40030011/). *Proceedings of the National Academy of Sciences of the United States of America*. [Epidemiology / Natural History]
Charoenngam N (2025). [PMID: 41316338](https://pubmed.ncbi.nlm.nih.gov/41316338/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Oct 3, 2026, 8:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:168588

GARD

Genetic and Rare Diseases Info Center

GARD:9882

Questions for Your Care Team

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cortisone reductase deficiency

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team