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Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

Journal of Clinical Endocrinology and Metabolism, ISSN: 0021-972X, Vol: 93, Issue: 10, Page: 3827-3832
2008
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Article Description

Cortisone reductase deficiency (CRD) is characterized by a failure to regenerate cortisol from cortisone via 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), resulting in increased cortisol clearance, activation of the hypothalamic-pituitary-axis (HPA) and ACTH-mediated adrenal androgen excess. 11β-HSD1 oxoreductase activity requires the reduced nicotinamide adenine dinucleotide phosphate-generating enzyme hexose-6-phosphate dehydrogenase (H6PDH) within the endoplasmic reticulum. CRD manifests with hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and infertility in females and premature pseudopuberty in males. Recent association studies have failed to corroborate findings that polymorphisms in the genes encoding H6PDH (R453Q) and 11β-HSD1 (Intron 3 inserted adenine) interact to cause CRD.

Bibliographic Details

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

The Endocrine Society

Medicine; Biochemistry, Genetics and Molecular Biology

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