Prevalence of activating thyrotropin receptor and Gsα gene mutations in paediatric thyroid toxic adenomas: A multicentric Italian study

Toxic thyroid adenomas or functioning nodules are rare in children and adolescents, representing less than 3% of all causes of hyperthyroidism.1 Somatic gain-of-function mutations of the TSHr gene (accession number NM_00369) have been identified as a cause of toxic thyroid adenomas and functioning nodules of toxic multinodular goitre in the adult.2 In patients with toxic thyroid adenomas coming from an area of iodine deficiency, activating somatic mutations in the TSHr gene have been detected in up to 80% and in the Gsa gene up to 25%, suggesting that these genetic anomalies may play a role in the pathogenesis of functioning nodules in adults. In contrast, the incidence of gain-of-function somatic mutations of the TSHr or Gsa genes in rare toxic thyroid adenoma in the paediatric population is poorly understood.3 In this study, we searched for somatic mutations of TSHr and Gsa genes in a group of nine children affected by toxic thyroid adenomas or functioning nodules that had undergone surgery.