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Related Experiment Videos

Primary cortisol resistance: a family study.

G P Chrousos, A C Vingerhoeds, D L Loriaux

    The Journal of Clinical Endocrinology and Metabolism
    |June 1, 1983
    PubMed
    Summary
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    Primary cortisol resistance is a genetic disorder causing high cortisol levels and resistance to dexamethasone suppression. Severe forms present with hypertension and hypokalemia, while milder cases are asymptomatic, detected through detailed cortisol secretion analysis.

    Area of Science:

    • Endocrinology
    • Genetics
    • Metabolic Disorders

    Background:

    • Primary cortisol resistance is an autosomal inherited condition.
    • Characterized by elevated plasma cortisol and urinary free cortisol.
    • Demonstrates resistance to dexamethasone suppression without Cushing's syndrome features.

    Purpose of the Study:

    • To describe the clinical and biochemical characteristics of primary cortisol resistance.
    • To differentiate between severe and less severe forms of the condition.
    • To highlight diagnostic challenges in asymptomatic individuals.

    Main Methods:

    • Biochemical assays for plasma cortisol and urinary free cortisol.
    • Dexamethasone suppression testing.
    • Clinical examination for signs of Cushing's syndrome.

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  • Analysis of cortisol secretion parameters.

    • Main Results:

    • Proband with severe form exhibited hypertension and hypokalemic alkalosis.
    • Less severe resistance cases showed no clinical abnormalities.
    • Condition identified through detailed cortisol secretion parameter examination.

    Conclusions:

    • Primary cortisol resistance presents a spectrum of clinical severity.
    • Hypertension and hypokalemia are indicators of severe disease.
    • Subtle forms require comprehensive endocrine evaluation for diagnosis.