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Endocr Dev. 2013;24:67-85. doi: 10.1159/000342505. Epub 2013 Feb 1.

Primary generalized familial and sporadic glucocorticoid resistance (Chrousos syndrome) and hypersensitivity.

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1
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

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.

PMID:
23392096
PMCID:
PMC4133123
DOI:
10.1159/000342505
[Indexed for MEDLINE]
Free PMC Article
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