Graves' disease in patients with 22q11.2 deletion.
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.
Kawame
H
H
Division of Clinical and Molecular Genetics, Shinshu University Hospital, Nagano, Japan.
Adachi
M
M
Tachibana
K
K
Kurosawa
K
K
Ito
F
F
Gleason
M M
MM
Weinzimer
S
S
Levitt-Katz
L
L
Sullivan
K
K
McDonald-McGinn
D M
DM
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
D013963:Thyroid Hormones; D013972:Thyrotropin