A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease.

ABSTRACT:

Background

Apart from PRKAR1A mutations in a subset of cyclical Cushing's syndrome due to primary pigmented nodular adrenocortical disease, the molecular basis of cyclical Cushing's syndrome has not been investigated. We speculated that cyclical Cushing's syndrome may be due to mutations in the clock genes that govern circadian rhythms, including the hypothalamic-pituitary-adrenal axis.

Case presentation

A 47-year-old man presented with mass effects from a sellar lesion. He was ultimately diagnosed with cyclical Cushing's disease due to a giant corticotrophinoma. We performed whole exome sequencing of germline and tumour DNA, SNP array of tumour DNA and tumour immunohistochemistry in order to detect variants in candidate circadian/pituitary-associated genes. We identified a

SUBMITTER: De Sousa SMC 

PROVIDER: S-EPMC6988286 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature