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cortisone reductase deficiency 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cortisone reductase deficiency 2

MONDO:0013842

Also known as:11-beta-hydroxysteroid dehydrogenase type 1 deficiencyCORTRD2HSD11B1 cortisone reductase deficiency

Overview

Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.

GeneticsAutosomal dominant · HSD11B1 (chr 1)

ResearchLimited published research (2 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 always present findings: Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio and Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio; and common findings: Insulin resistance, Acanthosis nigricans, Accelerated skeletal maturation, and Premature pubarche and others.

Organ System	Phenotype Count	Example Features
Hormones	1	Insulin resistance

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HSD11B1 encodes hydroxysteroid 11-beta dehydrogenase 1 (292 aa). Controls the reversible conversion of biologically active glucocorticoids such as cortisone to cortisol, and 11-dehydrocorticosterone to corticosterone in the presence of NADP(H). Highest expression in Liver (238.7 TPM) and Ovary (78.2 TPM).

Cortisone reductase deficiency 2 is associated with mutations in the HSD11B1 gene on chromosome 1.

The HSD11B1 protein participates in HSD11B1 hydrogenates PREDN to PREDL in hepatic cell and HSD11B2 dehydrogenates PREDL to PREDN pathways.

HSD11B1 is classified as a druggable target (Druggable Genome, Enzyme, and Short Chain Dehydrogenase Reductase categories) with score 6.1.

Diagnosis

Genetic testing for HSD11B1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 5 common features.

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 2.

2 publications have been identified in PubMed for cortisone reductase deficiency 2. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

Tomkins M (2025). [PMID: 39382395](https://pubmed.ncbi.nlm.nih.gov/39382395/). *The Journal of clinical endocrinology and metabolism*. [Epidemiology / Natural History]
Podraza J (2024). [PMID: 38791098](https://pubmed.ncbi.nlm.nih.gov/38791098/). *International journal of molecular sciences*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614662

GARD

Genetic and Rare Diseases Info Center

GARD:15830

Questions for Your Care Team

→Should I pursue genetic testing for HSD11B1, and what would the results mean for my family?
→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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cortisone reductase deficiency 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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