title: An adult case of 22q11.2 deletion syndrome diagnosed in a 36-year-old woman with hypocalcemia caused by hypoparathyroidism and Hashimoto's thyroiditis.
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.
authors.affiliation: Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Nakada
authors.forename: Ken
authors.initials: K
authors.lastname: Terui
authors.forename: Kazunori
authors.initials: K
authors.lastname: Kageyama
authors.forename: Yuko
authors.initials: Y
authors.lastname: Tsushima
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Murakami
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Soma
authors.forename: Takeshi
authors.initials: T
authors.lastname: Nigawara
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakihara
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D050031:Hashimoto Disease / Q000150:complications* / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000209:etiology* / Q000235:genetics; D007011:Hypoparathyroidism / Q000150:complications* / Q000151:congenital / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype