Autoimmune stigmata in Turner syndrome: When lacks an X chromosome

Larizza, Daniela; Calcaterra, Valeria; Martinetti, Miryam

doi:10.1016/j.jaut.2009.03.002

Cited by 75 publications

(69 citation statements)

References 63 publications

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“…According to our results, GD in group A presented significantly later than in group B, which is not surprising considering that the frequency of autoimmune thyroid disorders in TS has been reported to increase with age and to double from the first to the third decade of life [1,5]. Another peculiarity of GD, in our TS series, is the more frequent association with other autoimmune diseases, which confirms that TS patients are at higher risk for developing autoimmune diseases with respect to the general pediatric population [1,2,3]. Another significant difference between the two groups, at the time of GD presentation, regarded fT 4 serum levels, which were significantly lower in group A.…”

Section: Discussionsupporting

confidence: 63%

“…There is a consensus in the literature that autoimmune diseases are more common in women with Turner syndrome (TS) than in the general population [1,2,3] and that Hashimoto's thyroiditis (HT) is by far the most common autoimmune disease in TS [4,5,6,7,8,9]. In view of the well-known relationships between HT and Graves' disease (GD), GD might also be expected to be more frequent in TS, but the epidemiological studies aiming to assess the association between TS and GD are sparse and based on scarce study populations [3,7,8,10,11].…”

Section: Introductionmentioning

confidence: 99%

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Epidemiology, Presentation and Long-Term Evolution of Graves' Disease in Children, Adolescents and Young Adults with Turner Syndrome

et al. 2014

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Background: Epidemiological studies on the association between Turner syndrome (TS) and Graves' disease (GD) are sparse and no studies are available on the clinical course of GD in TS. Objectives: To retrospectively investigate the GD prevalence in children and young adults with TS and to compare the GD course in patients with or without TS who were followed up for 4.1 ± 0.6 and 4.5 ± 3.7 years, respectively. Design: The prevalence of GD in 408 TS patients was evaluated; presentation and evolution of GD under therapy were evaluated both in 7 patients with TS (group A) and in 89 patients without TS (group B). Results: (a) The prevalence of GD in TS patients was 1.7%; (b) GD in TS was not associated with a specific karyotype; (c) with respect to group B patients, those of group A exhibited at presentation more advanced age, a lower fT₄ level and more frequent association with other autoimmune diseases, and (d) the clinical course under methimazole therapy was not different in the two groups. Conclusions: The prevalence of GD in children and young adults with TS is 1.7% and in TS patients, GD presents later and its clinical course is not different than in those without TS.

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Section: Discussionsupporting

confidence: 63%

Section: Introductionmentioning

confidence: 99%

Epidemiology, Presentation and Long-Term Evolution of Graves' Disease in Children, Adolescents and Young Adults with Turner Syndrome

et al. 2014

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“…Major abnormalities of the X chromosome, such as monosomy, or structural abnormalities such as in Turner syndrome, may be characterized by autoimmune comorbidities in a significant proportion of cases [38,39]. Recent reports demonstrate that females Editorial Can we explain the higher prevalence of autoimmune disease in women?…”

Section: The X Chromosomementioning

confidence: 99%

Can we explain the higher prevalence of autoimmune disease in women?

Kivity

Ehrenfeld²

2010

Expert Review of Clinical Immunology

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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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Autoimmune stigmata in Turner syndrome: When lacks an X chromosome

Cited by 75 publications

References 63 publications

Epidemiology, Presentation and Long-Term Evolution of Graves' Disease in Children, Adolescents and Young Adults with Turner Syndrome

Epidemiology, Presentation and Long-Term Evolution of Graves' Disease in Children, Adolescents and Young Adults with Turner Syndrome

Can we explain the higher prevalence of autoimmune disease in women?

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

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