cortisone reductase deficiency https://github.com/monarch-initiative/mondo/issues/6753 https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency https://www.malacards.org/card/cortisone_reductase_deficiency DOID:0090139 deficiency of (R)-20-hydroxysteroid dehydrogenase MONDO:0000193 MEDGEN:266223 Orphanet:168588 11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of 11-beta-hydroxysteroid dehydrogenase deficiency type 1 GARD:0009882 ICD9:277.6 SCTID:124138004 deficiency of cortisone reductase HSD 11B1 deficiency hyperandrogenism due to cortisone reductase deficiency UMLS:C1291245 MESH:C536447 OMIMPS:604931 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. inherited lipid metabolism disorder reproductive system disorder adrenogenital syndrome