Peculiarities of autoimmune thyroid diseases in children with Turner or Down syndrome: an overview

Ital J Pediatr. 2015 May 15;41:39. doi: 10.1186/s13052-015-0146-2.


Aim of this commentary is to summarize the salient literature news on the relationships between autoimmune thyroid diseases (ATDs) and either Down syndrome (DS) or Turner syndrome (TS).According to literature reports both Hashimoto's thyroiditis (HT) and Graves' disease (GD) are more frequent in children with DS or TS than in those without these chromosomopathies.An up-regulation of proinflammatory cytokines might be responsible for the enhanced susceptibility of TS children to ATDs, whereas a dysregulation of immune system may favor the development of ATDs in DS.In TS children biochemical presentation of HT is less severe than in peer controls. In both DS and TS GD picture at the time of diagnosis is not significantly different than in the pediatric general population.The evolution over time of GD in DS and TS does not differ from that observed in the pediatric general population, whereas the evolution of HT in both TS and DS is more severe than in girls without these chromosomopathies.

Conclusions: The association with TS or DS is able to affect both epidemiology and course of ATDs by conditioning: a) an increased susceptibility to these disorders; b) a less severe biochemical presentation and a more severe evolutive pattern of HT in TS girls; c) a more severe biochemical presentation and evolution of HT in DS patients.

MeSH terms

  • Antithyroid Agents / administration & dosage
  • Child
  • Comorbidity
  • Down Syndrome / epidemiology*
  • Down Syndrome / physiopathology
  • Genetic Predisposition to Disease
  • Graves Disease / drug therapy
  • Graves Disease / epidemiology*
  • Graves Disease / genetics
  • Graves Disease / physiopathology
  • Hashimoto Disease / drug therapy
  • Hashimoto Disease / epidemiology*
  • Hashimoto Disease / genetics
  • Hashimoto Disease / physiopathology
  • Humans
  • Methimazole / administration & dosage
  • Turner Syndrome / epidemiology*
  • Turner Syndrome / genetics
  • Turner Syndrome / physiopathology


  • Antithyroid Agents
  • Methimazole