156 240

Cited 0 times in

A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.

Other Title
MEN1 유전자 돌연변이가 증명된 가족성 제1형 다발성 내분비 선종 가족 1예
Authors
조, 영은; 최, 용준; 김, 연경; 안, 상미; 정, 선혜; 김, 혜진; 김, 대중; 이, 관우; 홍, 지희; 정, 선용; 김, 현주; 정, 윤석
Citation
Journal of Korean Endocrine Society, 22(1):68-73, 2007
Journal Title
Journal of Korean Endocrine Society; 대한내분비학회지
ISSN
1015-6380
Abstract
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.
Keywords
MEN1 gene mutationMultiple endocrine neoplasia type 1 (MEN1)
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Journal Papers > School of Medicine / Graduate School of Medicine > Endocrinology & Metabolism
AJOU Authors
김, 혜진김, 대중이, 관우정, 선용김, 현주정, 윤석
Full Text Link
Files in This Item:
68-73.pdfDownload
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse