Association of five autoimmune diseases in a young woman with Down’s syndrome

Salzano, Giuseppina; Lombardo, Fortunato; Arrigo, Teresa; Sferlazzas, Concetta; Waśniewska, Małgorzata; Valenzise, Mariella; Luca, Filippo De

doi:10.1007/bf03346582

Cited by 12 publications

(9 citation statements)

References 5 publications

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“…In a limited number of cases, HT was associated with either Turner syndrome (TS) or Down syndrome (DS), i.e., two chromosomopathies that are known to be linked with an increased risk of autoimmune diseases (17,18,19,20,21,22,23,24,25) and especially thyroid diseases (26,27,28,29,30,31).…”

Section: Introductionmentioning

confidence: 99%

Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology

Waśniewska

Aversa

Salerno

et al. 2015

European Journal of Endocrinology

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Aim: To follow-up for 5 years thyroid status evolution in 127 girls with mild (TSH 5-10 mU/l) subclinical hypothyroidism (SH) of different etiologies. Patients: The population was divided into two age-matched groups of 42 and 85 girls with either idiopathic (group A) or Hashimoto's thyroiditis (HT)-related SH (group B). Group B was in turn divided into three subgroups, according to whether SH was either isolated or associated with Turner syndrome (TS) or Down syndrome (DS). Results: At the end of follow-up the rate of girls who became euthyroid was higher in group A (61.9% vs 10.6%), whereas the rates of patients who remained SH (55.3% vs 26.2%), became overtly hypothyroid (30.6% vs 11.9%) or required levothyroxine (L-T 4 ) therapy (63.5% vs 23.8%) were higher in group B. Among the girls of group B, the risk of remaining SH or developing overt hypothyroidism was higher in the subgroups with TS or DS than in those with isolated HT. Conclusions: Long-term prognosis of mild and idiopathic SH is frequently benign, even though a L-T 4 treatment may be needed throughout follow-up in almost a quarter of cases; long-term prognosis is different in the girls with either idiopathic or HT-related SH; and the association with either TS or DS impairs the outcome of HT-related SH.

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Section: Introductionmentioning

confidence: 99%

Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology

Waśniewska

Aversa

Salerno

et al. 2015

European Journal of Endocrinology

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“…7 Moreover, it must be borne in mind that DS children are also exposed to an increased risk of autoimmune disorders affecting both endocrine and non-endocrine organs. 8,9 Hashimoto's thyroiditis (HT) is by far the most common autoimmune disorder in DS children, 2,10 although Graves' disease (GD) prevalence has also been reported to be significantly higher in DS than in the general pediatric population. 10 The available literature reports concerning presentation and evolution over time of HT in DS children are scant, based on limited study populations ranging from 2 to 85 cases and do not include control groups, 2,10,12,13 with only one exception.…”

Section: Introductionmentioning

confidence: 99%

Peculiarities of presentation and evolution over time of Hashimoto’s thyroiditis in children and adolescents with Down’s syndrome

Aversa¹,

Salerno²,

Radetti³

et al. 2015

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BACKGROUND: Studies concerning presentation and evolution over time of Hashimoto's thyroiditis (HT) in children with Down's syndrome (DS) are few, are based on limited study populations and do not include control HT groups without DS. The aim of this multicenter study was to shed further light on the relationships between DS and HT in childhood. DE-SIGN: In this retrospective study we compared thyroid function patterns at HT presentation in 2 groups of children with (group A) or without DS (group B), including 146 and 553 cases, respectively. All group A patients were subsequently re-examined after a median interval of 5.1 years in order to prospectively re-evaluate the evolution over time of thyroid function patterns in DS. RESULTS: In group A, female predominance, age at HT diagnosis and rates of familiarity for thyroid diseases were significantly lower than in group B, whilst the association with non-thyroidal autoimmune diseases was more frequent. The hormonal patterns that were most frequently found in the 2 groups were, respectively, subclinical hypothyroidism (in group A) and euthyroidism (in group B). Thyroid dysfunctions were, overall, more frequent in group A (86.3 vs 45.7%, p<0.001). At re-evaluation, DS children exhibited further deterioration of thyroid function with some cases switching towards Graves' disease (GD). CONCLUSIONS HT in DS children: a) presents earlier, is not associated with female predominance and is more frequently associated with other autoimmune diseases; b) presents only very infrequently with a euthyroid hormonal profile; c) in a limited rate of cases switches with time to GD.

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“…A close monitoring of thyroid tests during follow-up has probably to be suggested also in the children with DS-related HT, at least according to the results of a very recent follow-up study on this specific issue [ 41 ]. Moreover, it is well known that the association with DS may sometimes condition a particularly severe clinical expression of autoimmunity [ 51 ].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2015

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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.

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Association of five autoimmune diseases in a young woman with Down’s syndrome

Cited by 12 publications

References 5 publications

Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology

Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology

Peculiarities of presentation and evolution over time of Hashimoto’s thyroiditis in children and adolescents with Down’s syndrome

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

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