Abstract
Aim: to describe the salient relationships between Graves’ disease (GD) and both Turner syndrome (TS) and Down syndrome (DS). Design: to conduct a secondary analysis of current literature on this topic. Results: 1) the prevalences of GD in TS and in DS young patients are 1.7% and 6.5‰, respectively, i.e. higher than that in pediatric general population (around 1‰); 2) in both these chromosomopathies GD presentation is often preceded by Hashimoto’s thyroiditis (HT) antecedents; 3) in both TS and DS, GD presents with a clinical picture very similar to that observed in GD patients without these chromosomopathies; 4) in TS, clinical course of GD under pharmacological therapy is very similar to that observed in non-TS girls; 5) in DS, clinical course of GD under pharmacological therapy is less severe than that in non-DS patients. Conclusions: in the children with either TS or DS, GD is characterized by two common epidemiological peculiarities, i.e. increased prevalence rate and elevated frequency of HT antecedents.
Highlights
Graves’ disease (GD) is an organ-specific autoimmune disease, which represents the commonest cause of hy-How to cite this paper: Wasniewska, M., Aversa, T., De Luca, F., Valenzise, M., Messina, M.F. and Lombardo, F. (2014) Epidemiological, Pathophysiological and Clinical Peculiarities of Graves’ Disease in Children with Down and Turner Syndrome: A Literature Review
Aim of this review is to summarize, for the first time, the salient news concerning the relationship between GD and both these chromosopathies, in order to underline some common aspects which characterize phenoltypical expression of GD in both Turner syndrome (TS) and Down syndrome (DS)
In TS it has been recently postulated that the increased risk of autoimmune thyroid disorders and other autoimmune diseases might be associated with haploinsufficiency of the genes in the pseudoautosomal region of X-chromosome [6] [26], which may play an important role in the pathogenesis of autoimmune disorders [13]
Summary
Graves’ disease (GD) is an organ-specific autoimmune disease, which represents the commonest cause of hy-. (2014) Epidemiological, Pathophysiological and Clinical Peculiarities of Graves’ Disease in Children with Down and Turner Syndrome: A Literature Review. According to the most recent literature reports, GD in patients with either TS or DS seems to be characterized by some significant peculiarities, in terms of epidemiology, pathophysiology and clinical presentation and course. These reports seem to suggest that the association with these chromosopathies might condition a peculiar phenotypical expression of GD, shedding some new light on the pathophysiology of this autoimmune thyroid disease. Aim of this review is to summarize, for the first time, the salient news concerning the relationship between GD and both these chromosopathies, in order to underline some common aspects which characterize phenoltypical expression of GD in both TS and DS
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