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J Pediatr. 2001 Dec;139(6):892-5.

Graves' disease in patients with 22q11.2 deletion.

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  • 1Division of Clinical and Molecular Genetics, Shinshu University Hospital, Nagano, Japan.


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.

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