/cortisone reductase deficiency

cortisone reductase deficiency

Rare Disease

MONDO:0000193

Also Known As

11-beta-hydroxysteroid dehydrogenase deficiency type 1CORTRDdeficiency of (R)-20-hydroxysteroid dehydrogenasedeficiency of cortisone reductasehyperandrogenism due to cortisone reductase deficiencyHSD 11B1 deficiency11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of

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.