Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.

Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.

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 deh...

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Váldodahkkit: Draper, N, Walker, E, Bujalska, I, Tomlinson, J, Chalder, S, Arlt, W, Lavery, G, Bedendo, O, Ray, D, Laing, I, Malunowicz, E, White, P, Hewison, M, Mason, P, Connell, J, Shackleton, C, Stewart, P
Materiálatiipa: Journal article
Giella:English
Almmustuhtton: 2003

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