Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom

M. Bronnegard, S. Werner, J. A. Gustafsson

Research output: Contribution to journalArticle

65 Scopus citations

Abstract

We have studied a woman with an apparent receptor-mediated resistance to cortisol on the basis of elevated 24-h mean plasma cortisol levels and increased urinary free cortisol. Plasma ACTH concentrations were normal but she was resistant to adrenal suppression by dexamethasone. No stigmata of Cushing's syndrome were seen. To study the proposed end-organ resistance to cortisol, we examined the glucocorticoid receptor (GR) in lymphocytes and in fibroblasts from this patient and from her son. Several molecular properties of the GR of lymphocytes from the patient were indistinguishable from that of normal control subjects. In thermolability assays, however, the patient's GR as well as her son's GR showed a striking heat sensitivity at 40° and 45°C when compared with GR from normal persons. In addition, data from the thermolability assays correlated well with the lack at 45°C of dexamethasone-induced decrease in in vitro [3H]thymidine incorporation into lymphocytes derived from both patients.

Original languageEnglish (US)
Pages (from-to)1270-1278
Number of pages9
JournalJournal of Clinical Investigation
Volume78
Issue number5
DOIs
StatePublished - 1986

ASJC Scopus subject areas

  • Medicine(all)

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