Gosselin J, Lebon-Labich B, Lucron H, Marçon F, Leheup B
Service de médecine infantile III et de génétique clinique, hôpital d'enfants, rue du Morvan, 54511 Vandoeuvre, France.
Arch Pediatr. 2004 Dec;11(12):1468-71. doi: 10.1016/j.arcped.2004.09.002.
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.