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.
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.