Endocrinol Metab > Volume 22(1); 2007 > Article
Journal of Korean Endocrine Society 2007;22(1):68-73.
DOI: https://doi.org/10.3803/jkes.2007.22.1.68    Published online February 1, 2007.
A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.
Young Eun Jo, Yong Jun Choi, Yun Kyung Kim, Sang Mi Ahn, Sun Hye Jung, Hae Jin Kim, Dae Jung Kim, Kwan Woo Lee, Ji Hee Hong, Seon Yong Jeong, Hyon J Kim, Yoon Sok Chung
1Department of Endocrinology and Metabolism, Ajou University School of Medicine, Korea.
2Department of Medical Genetics, Ajou University School of Medicine, Korea.
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid, pancreatic islet and pituitary gland tumors. It is caused by mutation of the MEN1, a tumor suppressor gene, with more than 400 different MEN1 mutations having been described. Herein is reported the case of a 26-year-old woman who had complained of personality and behavior changes, coupled with repetitive loss of consciousness. Her random plasma glucose and insulin were 68 mg/dL and 67.3 microIU/mL, respectively. Two pancreatic masses were noted on abdominal computed tomography, with hypercalcemia noted from a routine chemistry test. Her diagnosis was that of MEN1; therefore, her first-degree relatives were also screened. DNA analysis was also performed, from which a MEN1 gene mutation (738del4 -> new nomenclature: 628del4) was detected. Knowledge of the MEN1 mutation status could provide early recognition of a tumor.
Key Words: MEN1 gene mutation, Multiple endocrine neoplasia type 1 (MEN1)

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