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

Gareth G. Lavery | Zendy; Elizabeth A. Walker | Zendy; Ana Tiganescu | Zendy; Jon P. Ride | Zendy; Cedric Shackleton | Zendy; Jeremy Tomlinson | Zendy; John Connell | Zendy; David Ray | Zendy; Anna BiasonLauber | Zendy; E Małunowicz | Zendy; Wiebke Arlt | Zendy; Paul M. Stewart | Zendy

Open Access

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

Author(s) -

Gareth G. Lavery,

Elizabeth A. Walker,

Ana Tiganescu,

Jon P. Ride,

Cedric Shackleton,

Jeremy Tomlinson,

John Connell,

David Ray,

Anna BiasonLauber,

E Małunowicz,

Wiebke Arlt,

Paul M. Stewart

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2008-0743

Subject(s) - endocrinology , medicine , cortisone , glucocorticoid , hyperandrogenism , biology , hydroxysteroid , dehydrogenase , polycystic ovary , enzyme , biochemistry , insulin , insulin resistance

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 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 11beta-HSD1 (Intron 3 inserted adenine) interact to cause CRD.

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