Based on the results of RT-PCR and Western blot analysis, both MEN1 mRNA and menin protein appeared to be highly expressed in Cushing syndrome resulting from adrenocortical adenomas and carcinoma.
Although Cushing syndrome generally develops years after the more typical manifestations of MEN 1 appear, it may be the primary manifestation of MEN 1 syndrome.
For three patients with AIMAH, there was family history of CS; germline mutations were identified in three other patients in the genes for menin (one), fumarate hydratase (one), and adenomatosis polyposis coli (APC) (one); a PDE11A gene variant was found in another.