title: Graves' disease in patients with 22q11.2 deletion.
abstract: We report 4 female patients and 1 male patient with a 22q11.2 deletion and Graves' disease diagnosed at age 27 months, 7, 10, 17, and 16 years, respectively. The clinical presentations were typical for hyperthyroidism, but 1 female infant had seizures in addition to symptoms of hyperthyroidism. All patients had elevated serum levels of thyroid hormones in association with suppressed thyroid-stimulating hormone levels. From these observations, we suggest that Graves' disease may be a part of the clinical spectrum associated with the 22q11.2 deletion syndrome.
authors.affiliation: Division of Clinical and Molecular Genetics, Shinshu University Hospital, Nagano, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kawame
authors.forename: M
authors.initials: M
authors.lastname: Adachi
authors.forename: K
authors.initials: K
authors.lastname: Tachibana
authors.forename: K
authors.initials: K
authors.lastname: Kurosawa
authors.forename: F
authors.initials: F
authors.lastname: Ito
authors.forename: M M
authors.initials: MM
authors.lastname: Gleason
authors.forename: S
authors.initials: S
authors.lastname: Weinzimer
authors.forename: L
authors.initials: L
authors.lastname: Levitt-Katz
authors.forename: K
authors.initials: K
authors.lastname: Sullivan
authors.forename: D M
authors.initials: DM
authors.lastname: McDonald-McGinn
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006111:Graves Disease / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D013963:Thyroid Hormones / Q000097:blood / Q000235:genetics; D013972:Thyrotropin / Q000097:blood / Q000235:genetics
chemical_list: D013963:Thyroid Hormones; D013972:Thyrotropin