An Adult Case of 22q11.2 Deletion Syndrome Diagnosed in a 36-year-old Woman with Hypocalcemia Caused by Hypoparathyroidism and Hashimoto's Thyroiditis

• Published in: Internal Medicine Vol. 52; no. 12; pp. 1365 - 1368
• Main Authors: Nakada, Yuki, Terui, Ken, Kageyama, Kazunori, Tsushima, Yuko, Murakami, Hiroshi, Soma, Yasushi, Nigawara, Takeshi, Sakihara, Satoru
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01-01-2013
• Subjects: 22q11.2 deletion; Adult; autoimmune disease; Chromosome Deletion; Chromosomes, Human, Pair 22; DiGeorge Syndrome - complications; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - genetics; Female; Hashimoto Disease - complications; Hashimoto Disease - genetics; Humans; hypocalcemia; Hypocalcemia - etiology; Hypocalcemia - genetics; Hypoparathyroidism - complications; Hypoparathyroidism - congenital; Hypoparathyroidism - genetics; In Situ Hybridization, Fluorescence; Phenotype; thyroiditis
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.52.9543

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.