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Cortisol resistance in man.

M B Lipsett, M Tomita, D D Brandon

    Advances in Experimental Medicine and Biology
    |January 1, 1986
    PubMed
    Summary
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    Primary cortisol resistance is a familial disease causing high cortisol levels due to glucocorticoid receptor issues. Severe cases present with hypertension and hypokalemia, treatable with high-dose dexamethasone.

    Area of Science:

    • Endocrinology
    • Genetics
    • Molecular Biology

    Background:

    • Primary cortisol resistance is a rare familial disorder.
    • Characterized by elevated plasma cortisol and urinary free cortisol.
    • Normal circadian cortisol secretion patterns observed.

    Purpose of the Study:

    • To investigate the molecular mechanisms of primary cortisol resistance.
    • To characterize glucocorticoid receptor (GR) function in affected individuals.
    • To correlate GR abnormalities with clinical manifestations and treatment response.

    Main Methods:

    • Glucocorticoid receptor assays in peripheral mononuclear leukocytes, fibroblasts, and Epstein-Barr virus-transformed B-lymphocytes.
    • Dexamethasone binding affinity and receptor activation studies.

    Related Experiment Videos

  • Analysis of receptor molecular weight using SDS-PAGE.
  • Assessment of nuclear translocation of activated receptors.

    • Main Results:

    • Low GR affinity for dexamethasone identified in severely affected subjects.
    • Reduced GR induction in Epstein-Barr virus-transformed cells.
    • Increased rate of ligand dissociation from GR during thermal activation.
    • Normal nuclear binding of dexamethasone at saturating concentrations.
    • Clinical manifestations (hypertension, hypokalemia) corrected by high-dose dexamethasone.

    Conclusions:

    • Primary cortisol resistance involves GR defects affecting ligand binding and activation.
    • High plasma cortisol levels compensate for target tissue resistance.
    • Severe forms exhibit hypertension and hypokalemia due to mineralocorticoid excess.
    • High-dose dexamethasone effectively manages clinical symptoms.