Cortisone reductase deficiency (CORTRD) is a rare abnormality of cortisone metabolism. There are close phenotypic similarities between cortisone reductase deficiency (CRD) and polycystic ovary syndrome (PCOS). PCOS is a common endocrine disorder characterized by hirsutism, menstrual irregularity, anovulatory infertility, obesity, insulin resistance and hyperandrogenism. 11beta-HSD1 is a dimeric enzyme that catalyzes the reduction of cortisone to cortisol within the endoplasmic reticulum. And loss of its activity results in CRD. Mutations in H6PD, which encodes an enzyme supplying cofactor for the reaction, also have been identified as the cause of CRD.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the adrenal glands or adrenal hormone system
5A71 Adrenogenital disorders
H01111 Cortisone reductase deficiency
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06019 Steroid hormone biosynthesis
H01111 Cortisone reductase deficiency
Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM
Title
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
