cortisone reductase deficiency 1
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.