cortisone reductase deficiency
Findings
No curated finding names cortisone reductase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0000193), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating deoxycorticosterone levelHPOHP:0031186
- Frequent (30% to 79% of cases)
- Congenital adrenal hyperplasiaHPOHP:0008258
- Frequent (30% to 79% of cases)
- Elevated serum 11-deoxycortisolHPOHP:0025436
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- Increased circulating androgen concentrationHPOHP:0030348
- Frequent (30% to 79% of cases)
- Irregular menstruationHPOHP:0000858
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (2)
Other names
4 names
Resolves to: cortisone reductase deficiency
- Also called
- 11-beta-hydroxysteroid dehydrogenase deficiency type 1deficiency of (R)-20-hydroxysteroid dehydrogenasedeficiency of cortisone reductasehyperandrogenism due to cortisone reductase deficiency