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Cortisone reductase deficiency 2
rareDecreased 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.
- Identifiers
- MONDO:0013842 OMIM:614662
- Causal genes
- HSD11B1
- Part of
- Cortisone reductase deficiency
- Also known as
- 11-beta-hydroxysteroid dehydrogenase type 1 deficiency · cortisone reductase deficiency caused by mutation in HSD11B1 · cortisone reductase deficiency type 2 · CORTRD2 · HSD11B1 cortisone reductase deficiency
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