Primary generalized familial and sporadic glucocorticoid resistance (chrousos syndrome) and hypersensitivity

Evangelia Charmandari, Tomoshige Kino, George P. Chrousos

Research output: Chapter in Book/Report/Conference proceedingChapter

43 Citations (Scopus)

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.

Original languageEnglish
Title of host publicationHormone Resistance and Hypersensitivity
Subtitle of host publicationFrom Genetics to Clinical Management
EditorsMohamad Maghnie, Renata Lorini, Sandro Loche, Marco Cappa, Lucia Ghizzoni
Pages67-85
Number of pages19
DOIs
Publication statusPublished - 2 Apr 2013

Publication series

NameEndocrine Development
Volume24
ISSN (Print)1421-7082
ISSN (Electronic)1662-2979

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology
  • Endocrine and Autonomic Systems

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    Charmandari, E., Kino, T., & Chrousos, G. P. (2013). Primary generalized familial and sporadic glucocorticoid resistance (chrousos syndrome) and hypersensitivity. In M. Maghnie, R. Lorini, S. Loche, M. Cappa, & L. Ghizzoni (Eds.), Hormone Resistance and Hypersensitivity: From Genetics to Clinical Management (pp. 67-85). (Endocrine Development; Vol. 24). https://doi.org/10.1159/000342505