has material basis in germline mutation in H6PD cortisone reductase deficiency cortisone reductase deficiency 1 https://www.malacards.org/card/cortisone_reductase_deficiency_1 cortisone reductase deficiency 1 GARD:0015375 cortisone reductase deficiency caused by mutation in H6PD NCIT:C131849 DOID:0090141 cortisone reductase deficiency type 1 hexose-6-phosphate dehydrogenase deficiency H6PD cortisone reductase deficiency CORTRD1 OMIM:604931 Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. MEDGEN:764630 MONDO:0011503 UMLS:C3551716 apparent cortisone reductase deficiency