title: Primary generalized familial and sporadic glucocorticoid resistance (Chrousos syndrome) and hypersensitivity.
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.
authors: Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, University of Athens Medical School, Aghia Sophia Children's Hospital, Athens, Greece. evangelia.charmandari@googlemail.com
authors: Evangelia
authors: E
authors: Charmandari
authors: Tomoshige
authors: T
authors: Kino
authors: George P
authors: GP
authors: Chrousos
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D004351:Drug Resistance / Q000235:genetics; D005938:Glucocorticoids / Q000378:metabolism* / Q000494:pharmacology; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000378:metabolism / Q000502:physiology; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D008954:Models, Biological; D009154:Mutation / Q000502:physiology; D010913:Pituitary-Adrenal System / Q000378:metabolism / Q000502:physiology; D011965:Receptors, Glucocorticoid / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism*; D015398:Signal Transduction / Q000235:genetics; D013577:Syndrome
chemical_list: D005938:Glucocorticoids; D011965:Receptors, Glucocorticoid; D000324:Adrenocorticotropic Hormone
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