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

Context: 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...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2008-10, Vol.93 (10), p.3827-3832
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alopecia - complications Alopecia - genetics Alopecia - metabolism Biological and medical sciences Biomarkers - analysis Biomarkers - metabolism Carbohydrate Dehydrogenases - genetics Child Cortisone Reductase - deficiency Cortisone Reductase - genetics DNA Mutational Analysis Endocrinopathies Feeding. Feeding behavior Female Fundamental and applied biological sciences. Psychology Hirsutism - complications Hirsutism - genetics Hirsutism - metabolism Humans Male Medical sciences Metabolic Diseases - complications Metabolic Diseases - enzymology Metabolic Diseases - genetics Metabolic Diseases - metabolism Middle Aged Models, Biological Mutation - physiology Original Pedigree Puberty, Precocious - complications Puberty, Precocious - genetics Puberty, Precocious - metabolism Steroids - metabolism Vertebrates: anatomy and physiology, studies on body, several organs or systems Vertebrates: endocrinology
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