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KMID : 0356620070220010068
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Journal of Korean Society of Endocrinology
2007 Volume.22 No. 1 p.68 ~ p.73
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A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.
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Jo Young-Eun
Ahn Sang-Mi
Kim Yeon-Kyeong
Kim Dae-Jung
Chung Yoon-Sok
Lee Kwan-Woo
Choi Yong-Jun
Jung Sun-Hye
Kim Hae-Jin
Hong Ji-Hee
Jeong Seon-Yong
Kim Hyon-Ju
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Abstract
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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.
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KEYWORD
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MEN1 gene mutation, Multiple endocrine neoplasia type 1 (MEN1)
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