H01111
H number H01111
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