|Name||Cortisone reductase deficiency (CRD)|
|Description||Cortisone reductase deficiency (CRD) is a rare abnormality of cortisone metabolism. There are close phenotypic similarities between 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||Inherited metabolic disease; Endocrine disease|
|Gene||H6PD [HSA:9563] [KO:K13937]
HSD11B1 [HSA:3290] [KO:K15680]
|Marker||Extremely low ratio of cortisol to cortisone metabolites in urine.|
|Other DBs||ICD-10: E25.8
Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.
Proc Natl Acad Sci U S A 108:4111-6 (2011)
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
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
Nat Genet 34:434-9 (2003)
Draper N, Powell BL, Franks S, Conway GS, Stewart PM, McCarthy MI
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
Clin Endocrinol (Oxf) 65:64-70 (2006)