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Abstract
Aim of this commentary is to report the main peculiarities that have been found to characterize the phenotypic expression of autoimmune thyroid diseases (AITDs) in children with Down’s syndrome (DS). According to recent reports, DS children are, per se, more exposed to the risk of both Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), irrespective of other concomitant risk factors, such as female gender and family antecedents for AITDs. In the context of extra-thyroidal autoimmune disorders, the ones that preferentially aggregate with AITDs in DS children are alopecia areata and vitiligo. Another peculiar aspect, in DS children, is that HT presents with a more severe biochemical picture, which furtherly deteriorates over time. By contrast, GD does not demonstrate a more severe clinical and biochemical picture with respect to that generally observed in patients without DS. Finally, DS children might be at higher risk of progressing from HT toward GD over time.
Highlights
With a prevalence of 1:800 live births [1], Down’s syndrome (DS) is the commonest chromosomopathy in humans and the most frequent cause of severe learning disabilities [2].One of the most typical clinical features of DS children is their susceptibility toward several autoimmune diseases, such as Hashimoto’s thyroiditis (HT), Graves’ disease (GD), type 1 diabetes, celiac disease, alopecia, vitiligo and idiopathic arthritis [2, 3]
Epidemiology and pathophysiology In DS children, HT is, by far, the most common autoimmune disease ad its prevalence has been reported to be much more elevated than that generally reported in age-matched patients without this chromosomopathy: respectively 13–34% [11, 12] vs 1.3% [13]
GD [16] is very low, which is atypical and surprising. Both these findings suggest that children with DS are, per se, more prone to the risk of developing autoimmune thyroid diseases (AITDs), irrespective of other concomitants risk factors [8, 16, 17]
Summary
With a prevalence of 1:800 live births [1], Down’s syndrome (DS) is the commonest chromosomopathy in humans and the most frequent cause of severe learning disabilities [2].One of the most typical clinical features of DS children is their susceptibility toward several autoimmune diseases, such as Hashimoto’s thyroiditis (HT), Graves’ disease (GD), type 1 diabetes, celiac disease, alopecia, vitiligo and idiopathic arthritis [2, 3]. The association with DS seems to be able to condition, per se, an overexpression of autoimmune phenomena [3], as suggested by both the non-exceptional co-occurrence of many autoimmune disorders [4,5,6] and the spontaneous progression from HT to GD, that has been reported to occur more frequently in children with this syndrome [7, 8] than in the pediatric general population [9].
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