- A Case of Familial Multiple Endocrine Neoplasia with MEN1 Gene Mutation.
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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
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J Korean Endocr Soc. 2006;21(6):560-566. Published online December 1, 2006
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DOI: https://doi.org/10.3803/jkes.2006.21.6.560
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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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Citations
Citations to this article as recorded by  - Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1
Yoon Jung Chung, Sena Hwang, Jong Ju Jeong, Sun Yong Song, Se Hoon Kim, Yumie Rhee
Endocrinology and Metabolism.2014; 29(3): 270. CrossRef - Endocrine Diseases in Diabetes Mellitus
Yongsoo Park
Hanyang Medical Reviews.2012; 32(4): 171. CrossRef - Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors
Young Su Chae, Hee Jin Kim, Sun Wook Kim, Myung-Chul Chang
Journal of the Korean Surgical Society.2009; 76(1): 15. CrossRef
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