[Grave's disease in children with 22q11 deletion. Report of three cases]

Arch Pediatr. 2004 Dec;11(12):1468-71. doi: 10.1016/j.arcped.2004.09.002.
[Article in French]

Abstract

Hypothyroidism is a well recognized complication of 22q11.2 deletion syndrome. Auto-immune hyperthyroidism is less common. We report three patients with a 22q11.2 deletion and Graves' disease diagnosed at age 17, 14 and 11 years, respectively. The clinical and biological presentation was typical for auto-immune hyperthyroidism. Graves' disease should be periodically sought during the follow-up program of patients with 22q11.2 deletion syndrome.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 22*
  • Female
  • Graves Disease / genetics*
  • Humans
  • Male