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MENIN 유전자 돌연변이를 동반한 제1형 다발성 내분비선종 1 예

Other Titles
 A Case of Multiple Endocrine Neoplasia Type 1 with Mutation of MENIN Gene 
Authors
 박세은  ;  강은석  ;  이현주  ;  김소헌  ;  김형진  ;  도미영  ;  강신애  ;  한승진  ;  안철우  ;  차봉수  ;  임승길  ;  김경래  ;  김일진  ;  이현철 
Citation
 Endocrinology and Metabolism (대한내분비학회지), Vol.20(1) : 71-77, 2005 
Journal Title
 Endocrinology and Metabolism (대한내분비학회지) 
ISSN
 2093-596X 
Issue Date
2005
MeSH
Multiple endocrine neoplasia type 1 (MEN 1) ; Prolactinoma ; Insulinoma ; Hyperparathyroidism ; MENIN gene
Keywords
Multiple endocrine neoplasia type 1 (MEN 1) ; Prolactinoma ; Insulinoma ; Hyperparathyroidism ; MENIN gene
Abstract
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominantly inherited syndrome, characterized by the combined occurrence of tumors of the parathyroid glands, endocrine pancreas, and anterior pituitary gland. The MENIN gene, which is a kind of tumor suppressor gene, is located at the chromosomal locus 11q13. It consists of one untranslated exon and nine exons encoding the menin protein. We report a case of a 22-yearss-old woman with MEN type 1, who was proven to have a mutation in the MENIN gene. The patient was admitted because of repeated hypoglycemia. The fasting plasma glucose level was 32 mg/dL. Seventy two hours fasting test showed an the insulin/glucose ratio as 0.33. Endoscopic ultrasonography detected multiple masses on the pancreas. The arterial-stimulated venous sampling (ASVS) with calcium showed sudden step up of insulin at the head and tail portions of the pancreas. The sellar MRI showed a pituitary mass that produced prolactin. Instead of a pathologic diagnosis from operational specimen, the genetic analysis revealed a mutation in the MENIN 1 gene (exon 2, 200~201insAGCCC).
Files in This Item:
T200501032.pdf Download
DOI
10.3803/jkes.2005.20.1.71
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Shin Ae(강신애) ORCID logo https://orcid.org/0000-0002-9719-4774
Kang, Eun Seok(강은석) ORCID logo https://orcid.org/0000-0002-0364-4675
Kim, Kyung Rae(김경래)
Kim, So Hun(김소헌)
Do, Mi Yeong(도미영)
Park, Se Eun(박세은)
Ahn, Chul Woo(안철우) ORCID logo https://orcid.org/0000-0003-3733-7486
Lee, Hyun Joo(이현주)
Lee, Hyun Chul(이현철)
Lim, Sung Kil(임승길)
Cha, Bong Soo(차봉수) ORCID logo https://orcid.org/0000-0003-0542-2854
Han, Seung Jin(한승진)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/150935
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