Article
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
Nature genetics - 1 Aug 2003
Draper Nicole, Walker Elizabeth A, Bujalska Iwona J, Tomlinson Jeremy W, Chalder Susan M, Arlt Wiebke, Lavery Gareth G, Bedendo Oliver, Ray David W, Laing Ian, Malunowicz Ewa, White Perrin C, Hewison Martin, Mason Philip J, Connell John M, Shackleton Cedric H L, Stewart Paul M
Abstract excerpt
In cortisone reductase deficiency (CRD), activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS; refs. 1,2). This suggests a defect in the gene HSD11B1 encoding 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1), a primary regulator of tissue-specific glucocorticoid bioavailability. We...
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