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A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman

Authors
Lee, SK; Lee, MJ; Lee, HJ; Kim, BK; Sohn, YB; Chung, YS
Citation
Journal of bone metabolism, 20(1):57-60, 2013
Journal Title
Journal of bone metabolism
ISSN
2287-63752287-7029
Abstract
CATCH 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.
Keywords
HypocalcemiaHypoparathyroidismDiGeorge Syndrome
DOI
10.11005/jbm.2013.20.1.57
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
손, 영배정, 윤석
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