Document Detail

An Adult Case of 22q11.2 Deletion Syndrome Diagnosed in a 36-year-old Woman with Hypocalcemia Caused by Hypoparathyroidism and Hashimoto's Thyroiditis.
MedLine Citation:
PMID:  23774548     Owner:  NLM     Status:  In-Data-Review    
22q11.2 Deletion syndrome is recognized to be a major cause of congenital hypoparathyroidism, and affected patients exhibit a range of autoimmune characteristics. The syndrome becomes apparent in early childhood and is rarely diagnosed in adulthood. This report describes an adult case of 22q11.2 deletion syndrome first diagnosed in a 36-year-old woman with hypocalcemia caused by hypoparathyroidism and Hashimoto's thyroiditis. It is important to diagnose 22q11.2 deletion syndrome in adults because such patients are still at high risk for developing treatable diseases, such as hypocalcemia and autoimmune diseases.
Yuki Nakada; Ken Terui; Kazunori Kageyama; Yuko Tsushima; Hiroshi Murakami; Yasushi Soma; Takeshi Nigawara; Satoru Sakihara
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Internal medicine (Tokyo, Japan)     Volume:  52     ISSN:  1349-7235     ISO Abbreviation:  Intern. Med.     Publication Date:  2013  
Date Detail:
Created Date:  2013-06-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9204241     Medline TA:  Intern Med     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  1365-8     Citation Subset:  IM    
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan.
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