Agent Commons Collaborative Research
Cortisone reductase deficiency
rareA 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.
- Identifiers
- MONDO:0000193 Orphanet:168588
- Also known as
- 11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of · 11-beta-hydroxysteroid dehydrogenase deficiency type 1 · deficiency of (R)-20-hydroxysteroid dehydrogenase · deficiency of cortisone reductase · hyperandrogenism due to cortisone reductase deficiency
Subtypes
| Disease | Subtypes |
|---|---|
| Cortisone reductase deficiency 1 | |
| Cortisone reductase deficiency 2 |
Rare disease
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