Primary Generalized Familial and Sporadic Glucocorticoid Resistance (Chrousos Syndrome) and Hypersensitivity
- 1 February 2013
- book chapter
- Published by S. Karger AG
- Vol. 24, 67-85
Abstract
Familial or sporadic primary generalized glucocorticoid resistance or Chrousos syndrome is a rare genetic condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids and a consequent hyperactivation of the hypothalamic-pituitary-adrenal (HPA) axis. Primary generalized glucocorticoid hypersensitivity (PGGH) represents the mirror image of the former, and is characterized by generalized, partial, target-tissue hypersensitivity to glucocorticoids, and compensatory hypoactivation of the HPA axis. The molecular basis of both conditions has been ascribed to mutations in the human glucocorticoid receptor (hGR) gene, which impair the molecular mechanisms of hGR action and alter tissue sensitivity to glucocorticoids. This review summarizes the pathophysiology, molecular mechanisms and clinical aspects of Chrousos syndrome and PGGH.Keywords
This publication has 66 references indexed in Scilit:
- Q&A: Primary generalized glucocorticoid resistanceBMC Medicine, 2011
- Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene.2011
- Glucocorticoid receptor-9beta polymorphism is associated with systolic blood pressure and heart growth during early childhood. The Generation R StudyEarly Human Development, 2011
- Chrousos syndrome: a seminal report, a phylogenetic enigma and the clinical implications of glucocorticoid signalling changesEuropean Journal of Clinical Investigation, 2010
- Glucocorticoid Receptor Gene, Low-Grade Inflammation, and Heart Failure: The Heart and Soul StudyThe Journal of Clinical Endocrinology & Metabolism, 2010
- Association of Coronary Artery Disease With Glucocorticoid Receptor N363S VariantHypertension, 2003
- Interactions among the glucocorticoid receptor, lipoprotein lipase and adrenergic receptor genes and abdominal fat in the Québec Family StudyInternational Journal of Obesity, 2001
- The N363S Polymorphism of the Glucocorticoid Receptor: Potential Contribution to Central Obesity in Men and Lack of Association with Other Risk Factors for Coronary Heart Disease and Diabetes Mellitus1The Journal of Clinical Endocrinology & Metabolism, 2001
- A Glucocorticoid Receptor Gene Marker Is Associated with Abdominal Obesity, Leptin, and Dysregulation of the Hypothalamic‐Pituitary‐Adrenal AxisObesity Research, 2000
- Protracted Nuclear Export of Glucocorticoid Receptor Limits Its Turnover and Does Not Require the Exportin 1/CRM1-Directed Nuclear Export PathwayMolecular Endocrinology, 2000