Work

Primary Generalized Familial and Sporadic Glucocorticoid Resistance (Chrousos Syndrome) and Hypersensitivity

Year: 2013

Type: book-chapter

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.

Source: Endocrine development

DOI: 10.1159/000342505

Authors: Evangelia Charmandari, Tomoshige Kino, George P. Chrousos

Institutions: National and Kapodistrian University of Athens, Children's Hospital Agia Sophia, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Biomedical Research Foundation of the Academy of Athens

Language: English

Topic: Adrenal Hormones and Disorders

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development