Bilateral adrenal hyperplasia and NR3C1 mutations causing glucocorticoid resistance: Is there an association?

European Journal of Endocrinology
Nicolas C Nicolaides, George P Chrousos

Abstract

Glucocorticoids signal through their cognate, ubiquitously expressed glucocorticoid receptor (GR), which influences the transcription of a large number of target genes. Several genetic defects, including point mutations, deletions or insertions in the NR3C1 gene that encodes the GR, have been associated with familial or sporadic generalized glucocorticoid resistance or Chrousos syndrome. One of the clinical manifestations of this rare endocrine condition is bilateral adrenal hyperplasia due to compensatory elevations of plasma ACTH concentrations. In this commentary, we discuss the interesting findings of the recently published French MUTA-GR Study, and present our perspective on the evolving field of NR3C1 pathology.

References

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Oct 13, 2009·Steroids·Nicolas C NicolaidesEvangelia Charmandari
Jul 24, 2010·European Journal of Clinical Investigation·Evangelia Charmandari, Tomoshige Kino
Mar 25, 2011·BMC Medicine·George Chrousos
Oct 3, 2013·The Journal of Allergy and Clinical Immunology·Robert H Oakley, John A Cidlowski
Sep 18, 2014·Neuroimmunomodulation·Nicolas C NicolaidesEvangelia Charmandari
Feb 27, 2015·European Journal of Clinical Investigation·Nicolas C Nicolaides, Evangelia Charmandari
Mar 16, 2017·Molecular Psychiatry·A S Zannas, G P Chrousos
Jul 26, 2017·Hormones : International Journal of Endocrinology and Metabolism·Nicolas C Nicolaides, Evangelia Charmandari

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Citations

Jul 20, 2019·Stress : the International Journal on the Biology of Stress·Vadim TseilikmanDaniela Jezova

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