A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease.
Sunita M C De SousaJim ManavisJinghua FengPaul WangAndreas W SchreiberHamish S ScottDavid J TorpyPublished in: BMC endocrine disorders (2020)
This is the first report of an AHR variant with predicted pathogenicity in the pituitary adenoma setting. Our preliminary data suggest that the highly conserved AHR gene may represent a link between pituitary tumorigenesis, the hypothalamic-pituitary-adrenal axis and the clock system. Further research may indicate a role for the gene in the development of cyclical Cushing's disease.