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

Yuki Nakada; Ken Terui; Kazunori Kageyama; Yuko Tsushima; Hiroshi Murakami; Yasushi Soma; Takeshi Nigawara; Satoru Sakihara

doi:10.2169/internalmedicine.52.9543

CASE REPORTS

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

Yuki Nakada, Ken Terui, Kazunori Kageyama, Yuko Tsushima, Hiroshi Murakami, Yasushi Soma, Takeshi Nigawara, Satoru Sakihara

Author information

Yuki Nakada
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan
Ken Terui
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan
Kazunori Kageyama
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan
Yuko Tsushima
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan
Hiroshi Murakami
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan
Yasushi Soma
Department of Internal Medicine, Mutsu General Hospital, Japan
Takeshi Nigawara
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan
Satoru Sakihara
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan

Keywords: 22q11.2 deletion, autoimmune disease, hypocalcemia, thyroiditis

JOURNAL OPEN ACCESS

2013 Volume 52 Issue 12 Pages 1365-1368

DOI https://doi.org/10.2169/internalmedicine.52.9543

Details

Abstract

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.

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