Endocrinol Metab > Volume 21(6); 2006 > Article
Journal of Korean Endocrine Society 2006;21(6):560-566.
DOI: https://doi.org/10.3803/jkes.2006.21.6.560    Published online December 1, 2006.
A Case of Familial Multiple Endocrine Neoplasia with MEN1 Gene Mutation.
Hye Young Sung, Yeon Joo Chun, Hyeug Lee, Bum Jun Kwon, Kun Woo Park, Jung Min Lee, Sung Dae Moon, Sang Ah Chang, Je Ho Han
Department of Internal Medicine, The Catholic University of Korea College of Medicine, Korea.
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disorder that's characterized by the combined occurrence of primary hyperparathyroidism, endocrine pancreatic tumors and anterior pituitary adenomas, but such manifestations as carcinoid tumors, adrenal adenoma and lipoma are also seen. We report here on a case of a 52-years old man with MEN type 1. He had a parathyroid adenoma, empty sella and a non-functioning pancreatic and adrenal mass. On the genetic analysis, he was proven to have a mutation in the MEN1 gene (exon 2, 200-201, INS AGCCC). On the family study for the mutation, one of his siblings and his son proved to have the same mutation.
Key Words: Hyperparathyroidism, MEN1 gene, Multiple endocrine neoplasia type 1

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