关键词: 多发性内分泌腺瘤病1型, 甲状腺乳头状癌, 甲状旁腺功能亢进, 基因突变

Abstract: Objective To investigate the diagnosis,treatment and prognosis of multiple endocrine neoplasia syndrome type 1(MEN1). Methods There were 2 MEN1 patients, whose clinical manifestations were mainly hyperparathyroidism, 1 underwent radical thyroidectomy + subtotal parathyroidectomy, and the other underwent subtotal parathyroidectomy. Results Elevated parathyroid hormone(PTH) and blood calcium were found in both patients.Ultrasound and MIBI showed parathyroid adenoma.Gene detection confirmed MEN1 gene mutation.The two patients were both treated by resection of 3.5 parathyroids,and the PTH and blood calcium had returned to the normal range after operation. Conclusion MEN1 is a rare autosomal dominant inherited disorder,which is easy to be missed and misdiagnosed.Comprehensive analysis of clinical data,rational use of gene detection combined with surgery and other appropriate intervention measures are of great significance to the diagnosis,treatment and prognosis of MEN1.

Key words: Multiple endocrine neoplasia syndrome type 1, papillary thyroid carcinoma, hyperparathyroidism, gene mutation