Cortisone reductase deficiency

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, HSD 11B1 deficiency, 11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of

2 clinical trials for this condition and its sub-types.