Multiple endocrine neoplasia type 1 with ectopic parathyroid adenoma

Abstract

Multiple endocrine neoplasia type 1 (MEN1) syndrome, also known as Wermer’s syndrome, is a rare, autosomal dominant inherited syndrome caused by mutations in the MEN-1 tumor suppressor gene [1, 2]. The estimated prevalence of MEN1 syndrome is 1 : 30,000 in the general population [1]. This low frequency is the main reason for the rarity of controlled clinical trials. Patients can be diagnosed with MEN1 when 2 or more primary endocrine tumors, including pituitary tumors, pancreatic tumors, and parathyroid adenomas, are present. Among them, the most common pathological type is parathyroid adenoma with primary hyperparathyroidism (HPT). MEN1 with HPT is characterized by asynchronous and asymmetrical growth of the parathyroid glands. Ectopic parathyroid adenomas can also be observed in MEN1 patients, which can be easily misdiagnosed. In the present case, we report a man with persistent HPT, who was diagnosed with MEN1 based on the results of a genetic study. He was found to have an ectopic parathyroid adenoma in the retroesophageal region, which was the main gland to affect HPT. of a a