Multiple Endocrine Neoplasia type 1 with Familial Hyperparathyroidism - A Case Report

Pei-Chi Chen ； Shih-Ming Lai ； Yen-Ling Chen ； Chung-Yen Huang ； Kuan-Tien Chen ； Chin-Cheng Li

《Formosan Journal of Endocrinology and Metabolism》 1卷5期 (2010/10) Pp. 1-5

https://doi.org/10.6856/FJEM.201010_1(5).0001

摘要

Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disorder comprising hyperparathyroidism, enteropancreatic tumor, and pituitary tumor. Here, we report a case of MEN 1 with familial hyperparathyroidism. This 81-year-old female was diagnosed with insulinoma at age 68 and underwent distal pancreactectomy. Hyperparathyroidism was noticed at the same time, and subtotal parathyroidectomy was performed. However, recurrence was detected three years later. One year after the pancreatic surgery, Zollinger-Ellison syndrome was diagnosed owing to recurrent gastric ulcers with hypergastrinemia, despite having received subtotal gastrectomy due to duodenal ulcers 20 years previously. Elevated prolactin levels were also noted, and sella MRI revealed a microadenoma. At the regular follow-up, gastric ulcer biopsy via panendoscopy showed adenocarcinoma over the anastomotic site. Therefore, total gastrectomy was scheduled, and pathology showed carcinoid tumors and gastrinoma in addition to adenocarcinoma. She has been in a state of dementia for years, and is now in a nursing home. Two of her sons and two of her grandchildren also have hyperparathyroidism and receive regular endocrinologic follow-ups. So far, none of them has developed other endocrine tumors. Disease recurrence is more frequent in MEN1 than sporadic cases, and its management remains controversial. Regular biochemical and imaging tests are suggested.

關鍵字

multiple endocrine neoplasia type 1 (MEN1) ； hyperparathyroidism ； insulinoma ； gastrinoma ； pituitary tumor