A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.
MEN1 유전자 돌연변이가 증명된 가족성 제1형 다발성 내분비 선종 가족 1예
조, 영은; 최, 용준; 김, 연경; 안, 상미; 정, 선혜; 김, 혜진; 김, 대중; 이, 관우; 홍, 지희; 정, 선용; 김, 현주; 정, 윤석
Journal of Korean Endocrine Society, 22(1):68-73, 2007
Journal of Korean Endocrine Society; 대한내분비학회지
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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