Cortisone reductase deficiency

Definition:

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.

References:

[1]. Alexander J Lawson, et al. Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4111-6. [Content Brief]

[2]. Nicole Draper, et al. Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. Nat Genet. 2003 Aug;34(4):434-9. [Content Brief]

[3]. Nicole Draper, et al. Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. Clin Endocrinol (Oxf). 2006 Jul;65(1):64-70. [Content Brief]

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