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KMID : 0356620060210060560
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Journal of Korean Society of Endocrinology
2006 Volume.21 No. 6 p.560 ~ p.566
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A Case of Familial Multiple Endocrine Neoplasia with MEN1 Gene Mutation
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전연주
이혁/권범준/박건우/이정민/문성대/장상아/한제호/성혜영
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Abstract
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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.
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KEYWORD
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Hyperparathyroidism, MEN1 gene, Multiple endocrine neoplasia type 1
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