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.
MONDO:0002525
inherited lipid metabolism disorder
is_a
MONDO:0005039
reproductive system disorder
is_a
MONDO:0015898
adrenogenital syndrome
is_a
11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of
related
11-beta-hydroxysteroid dehydrogenase deficiency type 1
exact
HSD 11B1 deficiency
narrow
deficiency of (R)-20-hydroxysteroid dehydrogenase
exact
deficiency of cortisone reductase
exact
hyperandrogenism due to cortisone reductase deficiency
exact
SPAC3C7.13c SPCC794.01c