Article
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Oct 2008
Lavery Gareth G, Walker Elizabeth A, Tiganescu Ana, Ride Jon P, Shackleton Cedric H L, Tomlinson Jeremy W, Connell John M C, Ray David W, Biason-Lauber Anna, Malunowicz Ewa M, Arlt Wiebke, Stewart Paul M
Abstract excerpt
CONTEXT: Cortisone reductase deficiency (CRD) is characterized by a failure to regenerate cortisol from cortisone via 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1), resulting in increased cortisol clearance, activation of the hypothalamic-pituitary-axis (HPA) and ACTH-mediated adrenal androgen excess. 11beta-HSD1 oxoreductase activity requires the reduced nicotinamide adenine dinucleotide...
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