Glucocorticoid resistance syndrome

Definition

Glucocorticoid resistance is a rare syndrome characterized by decreased sensitivity to cortisol, increased secretion of cortisol, resistance to adrenal suppression by dexamethasone and the absence of the clinical stigmata of Cushing's syndrome. The clinical symptom of glucocorticoid resistance is variable. Phenotypes commonly include hypoglycemia, hypertension, and metabolic alkalosis. Mutations in the the glucocorticoid receptor (GR) gene NR3C1 have been reported.

References:

[1]. Evangelia Charmandari, et al. Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms. Ann N Y Acad Sci. 2004 Jun;1024:168-81. [Content Brief]

[2]. Kati M Donner, et al. Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1. Eur J Endocrinol. 2012 Dec 10;168(1):K9-K18. [Content Brief]

[3]. Paula J Bray, et al. Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. Hum Mutat. 2003 Jun;21(6):557-68. [Content Brief]

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