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

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Glucocorticoids
• Share to Hyperplasia
• Share to Mutation