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J Korean Endocr Soc. 2006 Dec;21(6):560-566. Korean. Case Report. https://doi.org/10.3803/jkes.2006.21.6.560
Sung HY , Chun YJ , Lee H , Kwon BJ , Park KW , Lee JM , Moon SD , Chang SA , Han JH .
Department of Internal Medicine, The Catholic University of Korea College of Medicine, Korea.
Abstract

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.

Copyright © 2019. Korean Association of Medical Journal Editors.