What is glucocorticoid receptor deficiency syndrome?

Updated: Dec 06, 2018
  • Author: Eleanor Lederer, MD, FASN; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Glucocorticoid receptor deficiency syndrome is caused by mutations to the NR3C1 gene and has different clinical manifestations in patients who are homozygous than it does in those who are heterozygous. Homozygotes for this condition display mineralocorticoid excess, hypertension, hypokalemia, and metabolic alkalosis.

Heterozygotes may have increased plasma cortisol levels and generally do not have hypokalemia or metabolic alkalosis. However, several reports in the literature have described likely heterozygotes for this condition who have symptoms of either partial adrenal insufficiency or mild virilization in females. [35, 36]

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