Glucocorticoid resistance (GCCR) 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.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the adrenal glands or adrenal hormone system
5A71 Adrenogenital disorders
H01702 Glucocorticoid resistance syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06310 CRH-ACTH-cortisol signaling
H01702 Glucocorticoid resistance syndrome
Donner KM, Hiltunen TP, Janne OA, Sane T, Kontula K
Title
Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1.