Cortisone reductase deficiency
Cortisone reductase deficiency
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.
Also known as 11-beta-hydroxysteroid dehydrogenase deficiency type 1, deficiency of (R)-20-hydroxysteroid dehydrogenase, deficiency of cortisone reductase, hyperandrogenism due to cortisone reductase deficiency — per MONDO