Cited 0 times in
MENIN 유전자 돌연변이를 동반한 제1형 다발성 내분비선종 1 예
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 강신애 | - |
dc.contributor.author | 강은석 | - |
dc.contributor.author | 김경래 | - |
dc.contributor.author | 김소헌 | - |
dc.contributor.author | 도미영 | - |
dc.contributor.author | 박세은 | - |
dc.contributor.author | 안철우 | - |
dc.contributor.author | 이현주 | - |
dc.contributor.author | 이현철 | - |
dc.contributor.author | 임승길 | - |
dc.contributor.author | 차봉수 | - |
dc.contributor.author | 한승진 | - |
dc.date.accessioned | 2017-10-26T06:31:37Z | - |
dc.date.available | 2017-10-26T06:31:37Z | - |
dc.date.issued | 2005 | - |
dc.identifier.issn | 2093-596X | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/150935 | - |
dc.description.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). | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Korean Endocrine Society | - |
dc.relation.isPartOf | Endocrinology and Metabolism (대한내분비학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Multiple endocrine neoplasia type 1 (MEN 1) | - |
dc.subject.MESH | Prolactinoma | - |
dc.subject.MESH | Insulinoma | - |
dc.subject.MESH | Hyperparathyroidism | - |
dc.subject.MESH | MENIN gene | - |
dc.title | MENIN 유전자 돌연변이를 동반한 제1형 다발성 내분비선종 1 예 | - |
dc.title.alternative | A Case of Multiple Endocrine Neoplasia Type 1 with Mutation of MENIN Gene | - |
dc.type | Article | - |
dc.publisher.location | Korea | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.googleauthor | 박세은 | - |
dc.contributor.googleauthor | 강은석 | - |
dc.contributor.googleauthor | 이현주 | - |
dc.contributor.googleauthor | 김소헌 | - |
dc.contributor.googleauthor | 김형진 | - |
dc.contributor.googleauthor | 도미영 | - |
dc.contributor.googleauthor | 강신애 | - |
dc.contributor.googleauthor | 한승진 | - |
dc.contributor.googleauthor | 안철우 | - |
dc.contributor.googleauthor | 차봉수 | - |
dc.contributor.googleauthor | 임승길 | - |
dc.contributor.googleauthor | 김경래 | - |
dc.contributor.googleauthor | 김일진 | - |
dc.contributor.googleauthor | 이현철 | - |
dc.identifier.doi | 10.3803/jkes.2005.20.1.71 | - |
dc.contributor.localId | A00052 | - |
dc.contributor.localId | A00068 | - |
dc.contributor.localId | A00294 | - |
dc.contributor.localId | A00624 | - |
dc.contributor.localId | A01311 | - |
dc.contributor.localId | A01521 | - |
dc.contributor.localId | A02270 | - |
dc.contributor.localId | A03297 | - |
dc.contributor.localId | A03301 | - |
dc.contributor.localId | A03375 | - |
dc.contributor.localId | A03996 | - |
dc.contributor.localId | A04302 | - |
dc.relation.journalcode | J00773 | - |
dc.identifier.eissn | 2093-5978 | - |
dc.relation.journalsince | 2011~ | - |
dc.identifier.pmid | 10.3803/jkes.2005.20.1.71 | - |
dc.relation.journalbefore | ~2010 Journal of Korea Society of Endocrinology (대한내분비학회지) | - |
dc.subject.keyword | Multiple endocrine neoplasia type 1 (MEN 1) | - |
dc.subject.keyword | Prolactinoma | - |
dc.subject.keyword | Insulinoma | - |
dc.subject.keyword | Hyperparathyroidism | - |
dc.subject.keyword | MENIN gene | - |
dc.contributor.alternativeName | Kang, Shin Ae | - |
dc.contributor.alternativeName | Kang, Eun Seok | - |
dc.contributor.alternativeName | Kim, Kyung Rae | - |
dc.contributor.alternativeName | Kim, So Hun | - |
dc.contributor.alternativeName | Do, Mi Yeong | - |
dc.contributor.alternativeName | Park, Se Eun | - |
dc.contributor.alternativeName | Ahn, Chul Woo | - |
dc.contributor.alternativeName | Lee, Hyun Joo | - |
dc.contributor.alternativeName | Lee, Hyun Chul | - |
dc.contributor.alternativeName | Lim, Sung Kil | - |
dc.contributor.alternativeName | Cha, Bong Soo | - |
dc.contributor.alternativeName | Han, Seung Jin | - |
dc.citation.volume | 20 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 71 | - |
dc.citation.endPage | 77 | - |
dc.identifier.bibliographicCitation | Endocrinology and Metabolism (대한내분비학회지), Vol.20(1) : 71-77, 2005 | - |
dc.date.modified | 2017-05-04 | - |
dc.identifier.rimsid | 42804 | - |
dc.type.rims | ART | - |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.