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GTR Home > Conditions/Phenotypes > Glucocorticoid resistance

Glucocorticoid resistance

Synonyms
Cortisol resistance from glucocorticoid receptor defect; Gccr deficiency; Gcr deficiency; Glucocorticoid receptor deficiency; Glucocorticoid resistance, generalized
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Generalized glucocorticoid resistance is an autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of clinical stigmata of Cushing syndrome. The clinical expression of the disease is variable. Common features include hypoglycemia, hypertension, and metabolic alkalosis. In females, overproduction of adrenal androgens has been associated with infertility, male-pattern baldness, hirsutism, and menstrual irregularities. Other features include chronic fatigue and profound anxiety (summary by Chrousos et al., 1983; Donner et al., 2013). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GCCR, GCR, GCRST, GR, GRL, NR3C1
    Summary: nuclear receptor subfamily 3 group C member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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