A large functioning parathyroid cyst in a patient with multiple endocrine neoplasia type 1

[摘要] References(18)Cited-By(5)A 62-year-old woman presented with a mass on the left side of the neck.Biochemical testing revealed primary hyperparathyroidism.Further, a prolactinoma was detected, and the patient’s son and daughter also had primary hyperparathyroidism, indicating that the patient had multiple endocrine neoplasia type 1 (MEN1).Neck ultrasonography revealed several cystic nodules (≤30 mm) that appeared to be adenomatous.After parathyroidectomy with autotransplantation, the largest cystic mass, in the left lower thyroid lobe, was pathologically diagnosed as a functioning parathyroid cyst, and all laboratory data returned to normal.On genetic analysis of blood, we found a novel single base insertion (duplication) in exon 10 codon 552 of the MEN1 gene (c1659dupT) that creates an early stop codon.This is the first case report of a parathyroid cyst resulting from parathyroid hyperplasia in a MEN1 patient.

[学科分类] 内分泌与代谢学

[关键词] Functioning parathyroid cyst;Multiple endocrine neoplasia;Adenomatous nodules