Cited 0 times in Scipus Cited Count

A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman

DC Field Value Language
dc.contributor.authorLee, SK-
dc.contributor.authorLee, MJ-
dc.contributor.authorLee, HJ-
dc.contributor.authorKim, BK-
dc.contributor.authorSohn, YB-
dc.contributor.authorChung, YS-
dc.date.accessioned2014-07-14T05:00:34Z-
dc.date.available2014-07-14T05:00:34Z-
dc.date.issued2013-
dc.identifier.issn2287-6375-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/10561-
dc.description.abstractCATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prevalence estimated at 1:3,000-1:9,000. Most deletions occurs sporadic, but autosomal dominant inheritance observed in 6-10% of cases. CATCH22 often diagnosed due to hypocalcemia during neonatal period or decreased immunity or facial defect, so it is very rare being diagnosed CATCH22 in adulthood. We report a 57 year old female who referred to mental change due to hypocalcemia and is diagnosed CATCH22. She was presented with hypoparathyroidism, single kidney due to renal agenesis, and mild facial defect. Our patient responded well to calcium and vitamin D treatment and she is on follow-up in outpatient clinic.-
dc.formatapplication/pdf-
dc.language.isoen-
dc.titleA Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman-
dc.typeArticle-
dc.identifier.pmid24524058-
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/pmc3780829/-
dc.subject.keywordHypocalcemia-
dc.subject.keywordHypoparathyroidism-
dc.subject.keywordDiGeorge Syndrome-
dc.contributor.affiliatedAuthor손, 영배-
dc.contributor.affiliatedAuthor정, 윤석-
dc.type.localJournal Papers-
dc.identifier.doi10.11005/jbm.2013.20.1.57-
dc.citation.titleJournal of bone metabolism-
dc.citation.volume20-
dc.citation.number1-
dc.citation.date2013-
dc.citation.startPage57-
dc.citation.endPage60-
dc.identifier.bibliographicCitationJournal of bone metabolism, 20(1). : 57-60, 2013-
dc.identifier.eissn2287-7029-
dc.relation.journalidJ022876375-
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
Files in This Item:
24524058.pdfDownload

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

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

Browse