Endocrinol Metab > Volume 26(2); 2011 > Article
Endocrinology and Metabolism 2011;26(2):171-176.
DOI: https://doi.org/10.3803/EnM.2011.26.2.171    Published online June 1, 2011.
A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene.
Min Jung Kim, Eun Hee Kim, Mi Seon Shin, Joo Hui Kim, Hee Kyung Na, Seong Joon Park, Sang Ah Lee, Eun Hee Koh, Woo Je Lee, Ki Ho Song, Joong Yeol Park, Ki Up Lee, Gu Hwan Kim, Han Wook Yoo, Min Seon Kim
1Department of Internal Medicine, University of Ulsan College of Medicine, Seoul, Korea. mskim@amc.seoul.kr
2Department of Internal Medicine, Konkuk University School of Medicine, Seoul, Korea.
3Medical Genetics Clinics and Laboratory, University of Ulsan College of Medicine, Seoul, Korea.
4Department of Pediatrics, University of Ulsan College of Medicine, Seoul, Korea.
Abstract
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of multiple tumors in the parathyroid gland, pancreatic islet, and pituitary gland. This condition is caused by mutations of MEN1, a tumor suppressor gene. Thus far, 565 different germline and somatic mutations of the MEN1 gene have been reported. Herein, we describe the case of a 23-year-old woman who suffered from a repetitive loss of consciousness. After workup, the patient was diagnosed with MEN1 with insulinoma, hyperparathyrodism due to parathyroid adenoma, and non-functioning pituitary microadenoma. She underwent a partial parathyroidectomy and distal pancreatectomy. Familial screening of MEN1 revealed that her brother had prolactinoma, hyperparathyroidism, pancreatic gastrinoma and non-functioning adrenal adenoma. Her father had hyperparathyroidism, pancreatic tumor, and adrenal adenoma. Upon genetic analysis of the MEN1 gene, a novel mutation in the MEN1 gene (exon 1, c.251del; p.Ser84LuefsX35) was detected in the patient, as well as her father and brother.
Key Words: Multiple endocrine neoplasia type 1, Insulinoma, Hyperparathyroidism


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