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Cited by 76Adrenal Hormones and DisordersEstrogen and related hormone effectsHormonal Regulation and Hypertension

Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms

CHARMANDARI, EVANGELIA, KINO, TOMOSHIGE, CHROUSOS, GEORGE P.·2004·Annals of the New York Academy of Sciences
DOI 10.1196/annals.1321.014
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Abstract

Glucocorticoids regulate a variety of biologic processes and exert profound influences on many physiologic functions. Their actions are mediated by the glucocorticoid receptor (GR), which belongs to the nuclear receptor family of ligand-dependent transcription factors. Alterations in tissue sensitivity to glucocorticoids may manifest as states of resistance or hypersensitivity. Glucocorticoid resistance is a rare, familial or sporadic, condition characterized by generalized, partial target-tissue resistance to glucocorticoids. Compensatory elevations in circulating adrenocorticotropic hormone (ACTH) concentrations lead to increased production of adrenal steroids with mineralocorticoid and/or androgenic activity and their corresponding clinical manifestations, as well as increased urinary free-cortisol excretion in the absence of symptomatology suggestive of hypercortisolism. The molecular basis of the condition has been ascribed to mutations in the GR gene, which impair normal glucocorticoid signal transduction, altering tissue sensitivity to glucocorticoids. The present review focuses on the mechanisms of GR action and the clinical manifestations and molecular mechanisms of familial/sporadic glucocorticoid resistance.

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  • These point mutations may interfere with GRα-dependent transcriptional regulation through altered DNA binding, impaired ligand binding, delayed nuclear localization, abnormal nuclear aggregation, and disrupted interaction with coactivators, depending on the position of the mutation.

    “These point mutations may interfere with GR␣-dependent transcriptional regulation through altered DNA binding, impaired ligand binding, delayed nuclear localization, abnormal nuclear aggregation, and disrupted interaction with coactivators, depending on the position of the mutation (634).”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [634]

  • Patients with familial glucocorticoid resistance may have fatigue, hypertension, and hypokalemic alkalosis, suggesting a mineralocorticoid excess syndrome, and may also have hyperandrogenism.

    “These very rare patients may have fatigue, hypertension, and hypokalemic alkalosis, suggesting a mineralocorticoid excess syndrome, but they may also have hyperandrogenism (634).”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [634]

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Authors
CHARMANDARI, E., KINO, T., & CHROUSOS, G. P.
Affiliations
National Institutes of Health (US)
Corresponding author
CHARMANDARI, EVANGELIA
ORCID
Venue
Annals of the New York Academy of Sciences
Publisher
Wiley
Published
2004-06
Volume
1024
Issue
1
Pages
168-181
ISSN
  • 0077-8923 (ISSN-L)
  • 1749-6632
DOI
10.1196/annals.1321.014
OpenAlex
W2121287057
Cited by
76
References
59
Citations by year
2026: 2 · 2025: 2 · 2023: 3 · 2022: 2 · 2021: 6 · 2020: 3 · 2019: 1 · 2018: 4 · 2017: 2 · 2015: 2 · 2014: 1 · 2013: 4 · 2012: 3
FWCI
0.66
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 590 d)
Locations
  • Annals of the New York Academy of Sciences (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Estrogen and related hormone effects
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
Keywords
glucocorticoid resistance, glucocorticoid receptor, ACTH, Cushing's disease, adrenal steroidogenesis, mineralocorticoid activity, androgenic activity, urinary free cortisol, clinical phenotype
MeSH terms
Animals, Drug Resistance, Glucocorticoids, Humans, Mutation, Phenotype, Receptors, Glucocorticoid, Genetic Diseases, Inborn, Mice

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