Hereditary Primary Bilateral Macronodular Adrenal Hyperplasia Concomitant With Diabetes, Obesity and Pancreatic Cancer: A Case Report

Abstract

We herein report a 61-year-old man with diabetes and primary bilateral macronodular adrenal hyperplasia (PBMAH) associated with an ARMC5 variant who developed thyroid and pancreatic cancer. The patient was diagnosed with diabetes and obesity at 41 years old. At 48 years old, PBMAH complicated with subclinical Cushing syndrome was detected during hospitalization for diabetic ketoacidosis. Afterwards, the patient developed bilateral papillary thyroid cancer, so we suspected a genetic mutation. Pathogenic germline mutations in ARMC5, a major tumor suppressor gene detected in PBMAH, may play an important role in extra-adrenal tumorigenesis in PBMAH. In our patient, a heterozygous mutation[c.1855C>T (p.R619^*) ]of the gene was confirmed. The patient was treated with liraglutide and insulin, and hemoglobin A1c was maintained at 6 % to 7 %. Unfortunately, however, the patient died of pancreatic cancer at 61 years old. To our knowledge, this is the first report of a case of PBMAH and concomitant pancreatic cancer. Both PBMAH and diabetes are assumed to increase the risk of cancer. Furthermore, approximately half of patients with PBMAH develop glucose intolerance. Thus, strict screening for neoplastic diseases should be recommended in patients with PBMAH complicated with diabetes.