KEGG   DISEASE: Glucocorticoid resistance syndromeHelp
Entry
H01702                      Disease                                

Name
Glucocorticoid resistance syndrome
Description
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.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H01702  Glucocorticoid resistance syndrome
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
BRITE hierarchy
Pathway
hsa04080  Neuroactive ligand-receptor interaction
Gene
NR3C1 [HSA:2908] [KO:K05771]
Comment
This syndrome is distinct from "glucocorticoid resistance to the treatment".
See also H01431 Cushing's syndrome.
Other DBs
ICD-11: 5A71.00
ICD-10: E25.8
MeSH: C564221
OMIM: 615962
Reference
  Authors
Charmandari E, Kino T, Chrousos GP
  Title
Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms.
  Journal
Ann N Y Acad Sci 1024:168-81 (2004)
DOI:10.1196/annals.1321.014
Reference
  Authors
Bray PJ, Cotton RG
  Title
Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.
  Journal
Hum Mutat 21:557-68 (2003)
DOI:10.1002/humu.10213
Reference
  Authors
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.
  Journal
Eur J Endocrinol 168:K9-K18 (2013)
DOI:10.1530/EJE-12-0532

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