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.

Also known as: CORTRD1, H6PD cortisone reductase deficiency, apparent cortisone reductase deficiency, cortisone reductase deficiency 1, cortisone reductase deficiency caused by mutation in H6PD, cortisone reductase deficiency type 1, hexose-6-phosphate dehydrogenase deficiency

2 clinical trials for this condition and its sub-types, 0 tagged with Cortisone reductase deficiency 1 itself.