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

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概要

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• 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.

• 社団法人 日本内科学会の論文

著者

• Sakihara Satoru

  Department Of Endocrinology And Metabolism Hirosaki University Graduate School Of Medicine

• Kageyama Kazunori

  Department Of Endocrinology And Metabolism Hirosaki University Graduate School Of Medicine

• Terui Ken

  Department Of Endocrinology And Metabolism Hirosaki University Graduate School Of Medicine

• Tsushima Yuko

  Department Of Endocrinology And Metabolism Hirosaki University Graduate School Of Medicine

• Nigawara Takeshi

  Department Of Endocrinology And Metabolism Hirosaki University Graduate School Of Medicine

• Murakami Hiroshi

  Department of Applied Chemistry, Nagoya Institute of Technology

• Murakami Hiroshi

  Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan

• Nakada Yuki

  Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan

• Soma Yasushi

  Department of Internal Medicine, Mutsu General Hospital, Japan

• Kageyama Kazunori

  Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan

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