cortisone reductase deficiency 1
Findings
No curated finding names cortisone reductase deficiency 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. 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 11-beta HSD type 1 deficiency.
Definition from the Mondo Disease Ontology (MONDO:0011503), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset · Middle age onset · Juvenile onset · Late young adult onset
HPO, annotations 2026-09-02
Features
6 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.
- HirsutismHPOHP:0001007
- 3 of 4 reported patients
- InfertilityHPOHP:0000789
- 2 of 3 reported patients
- OligomenorrheaHPOHP:0000876
- 1 of 3 reported patients
- AcneHPOHP:0001061
- 1 of 4 reported patients
- AlopeciaHPOHP:0001596
- 1 of 4 reported patients
- Precocious pubertyHPOHP:0000826
Genes
1 gene
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.
- H6PDHGNC:4795
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
6 names
Resolves to: cortisone reductase deficiency 1
- Also called
- apparent cortisone reductase deficiencycortisone reductase deficiency caused by mutation in H6PDcortisone reductase deficiency type 1CORTRD1H6PD cortisone reductase deficiencyhexose-6-phosphate dehydrogenase deficiency