Graves' disease in patients with 22q11.2 deletion

Hiroshi Kawame, Masanori Adachi, Katsuhiko Tachibana, Kenji Kurosawa, Fumiyuki Ito, Marie M. Gleason, Stuart Weinzimer, Lorraine Levitt-Katz, Kathleen Sullivan, Donna M. McDonald-McGinn

Research output: Contribution to journalArticlepeer-review

44 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)892-895
Number of pages4
JournalJournal of Pediatrics
Issue number6
Publication statusPublished - 2001 Jan 1
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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