Cortisone reductase deficiency 1

Definition

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 apparent cortisone reductase deficiency, cortisone reductase deficiency 1, cortisone reductase deficiency caused by mutation in H6PD, cortisone reductase deficiency type 1, CORTRD1, H6PD cortisone reductase deficiency, hexose-6-phosphate dehydrogenase deficiency — per MONDO

Also identified as

• DOID 0090141 per MONDO
• NCIT C131849 per MONDO
• OMIM 604931 per MONDO
• UMLS C3551716 per MONDO

Affected Organs