Italian Journal of Pediatrics | |
Peculiarities of autoimmune thyroid diseases in children with Turner or Down syndrome: an overview | |
Malgorzata Wasniewska1  Filippo De Luca1  Giuseppina Salzano1  Concetta Sferlazzas1  Maria Francesca Messina1  Mariella Valenzise1  Fortunato Lombardo1  Tommaso Aversa1  | |
[1] Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Via Consolare Valeria, Messina, 98125, Italy | |
关键词: Pathophysiology; Hashimoto’s thyroiditis; Graves’ disease; Epidemiology; Course; Chromosomopathies; | |
Others : 1206732 DOI : 10.1186/s13052-015-0146-2 |
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received in 2015-02-27, accepted in 2015-05-01, 发布年份 2015 | |
【 摘 要 】
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.
【 授权许可】
2015 Aversa et al.; licensee BioMed Central.
【 预 览 】
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【 参考文献 】
- [1]Hemminki K, Li X, Sundquist J, Sundquist K: The epidemiology of Graves’ disease: evidence of a genetic and an environmental contribution. J Autoimmun 2010, 34:J307-13.
- [2]Brix TH, Hegedüs L: Twin studies as a model for exploring the aetiology of autoimmune thyroid disease. Clin Endocrinol 2012, 76:457-64.
- [3]Zois C, Stavrou I, Kalogera C, Svarna E, Dimoliatis I, Seferiadis K, et al.: High prevalence of autoimmune thyroiditis in schoolchildren after elimination of iodine deficiency in northwestern Greece. Thyroid 2003, 13:485-9.
- [4]Yang F, Shan Z, Teng X, Li Y, Guan H, Chong W, et al.: Chronic iodine excess does not increase the incidence of hyperthyroidism: a prospective community-based epidemiological survey in China. Eur J Endocrinol 2007, 156:403-8.
- [5]Ergür AT, Evliyaoğlu O, Şıklar Z, Bilir P, Öcal G, Berberoğlu M: Evaluation of thyroid functions with respect to iodine status and TRH test in chronic autoimmune thyroiditis. J Clin Res Pediatr Endocrinol 2011, 3:18-21.
- [6]Laurberg P, Cerqueira C, Ovesen L, Rasmussen LB, Perrild H, Andersen S, et al.: Iodine intake as a determinant of thyroid disorders in populations. Best Pract Res Clin Endocrinol Metab 2010, 24:13-27.
- [7]Lleo A, Moroni L, Caliari L, Invernizzi P: Autoimmunity and Turner’s syndrome. Autoimmun Rev 2012, 11:A538-43.
- [8]Roizen NJ, Patterson D: Down’s syndrome. Lancet 2003, 361:1281-9.
- [9]Aversa T, Lombardo F, Corrias A, Salerno M, De Luca F, Wasniewska M: In young patients with Turner or Down syndrome, Graves’ disease presentation is often preceded by Hashimoto’s thyroiditis. Thyroid 2014, 24:744-7.
- [10]Aversa T, Messina MF, Mazzanti L, Salerno M, Mussa A, Faienza MF, et al.: The association with Turner syndrome significantly affects the course of Hashimoto’s thyroiditis in children, irrespective of karyotype. Endocrine 2014.
- [11]Goday-Arno A, Cerda-Esteva M, Flores-Le-Roux JA, Chillaron-Jordan JJ, Corretger JM, Cano-Pérez JF: Hyperthyroidism in a population with Down syndrome (DS). Clin Endocrinol 2009, 71:110-4.
- [12]De Luca F, Corrias A, Salerno M, Wasniewska M, Gastaldi R, Cassio A, et al.: Peculiarities of Graves’ disease in children and adolescents with Down’s syndrome. Eur J Endocrinol 2010, 162:591-5.
- [13]Valenzise M, Aversa T, Corrias A, Mazzanti L, Cappa M, Ubertini G, et al.: Epidemiology, presentation and long-term evolution of Graves’ disease in children, adolescents and young adults with Turner syndrome. Horm Res Paediatr 2014, 81:245-50.
- [14]Livadas S, Xekouki P, Fouka F, Kanaka-Gantenbein C, Kaloumenou I, Mavrou A, et al.: Prevalence of thyroid dysfunction in Turner’s syndrome: a long-term follow-up study and brief literature review. Thyroid 2005, 15:1061-6.
- [15]Rallison ML, Dobyns BM, Keating FR, Rall JE, Tyler FH: Occurrence and natural history of chronic lymphocytic thyroiditis in childhood. J Pediatr 1975, 86:675-82.
- [16]Tozzoli R, Perini R: Malattie autoimmuni nei primi anni di vita: dai sintomi alla diagnosi di laboratorio. La Rivista Italiana della Medicina di Laboratorio – Italian Journal of. Lab Med 2007, 3:45-50.
- [17]Cooper GS, Stroehla BC: The epidemiology of autoimmune diseases. Autoimmun Rev 2003, 2:119-25.
- [18]Fukuda I, Hizuka N, Kurimoto M, Morita J, Tanaka S, Yamakado Y, et al.: Autoimmune thyroid diseases in 65 Japanese women with Turner syndrome. Endocr J 2009, 56:983-6.
- [19]Larizza D, Calcaterra V, Martinetti M: Autoimmune stigmata in Turner syndrome: when lacks an X chromosome. J Autoimmun 2009, 33:25-30.
- [20]Grossi A, Crinò A, Luciano R, Lombardo A, Cappa M, Fierabracci A: Endocrine autoimmunity in Turner syndrome. Ital J Pediatr 2013, 39:79. BioMed Central Full Text
- [21]Wasniewska M, Corrias A, Messina MF, Crisafulli G, Salzano G, Valenzise M, et al.: Graves’ disease prevalence in a young population with Turner syndrome. J Endocrinol Invest 2010, 33:69-70.
- [22]Radetti G, Mazzanti L, Paganini C, Bernasconi S, Russo G, Rigon F, et al.: Frequency, clinical and laboratory features of thyroiditis in girls with Turner’s syndrome. The Italian Study Group for Turner’s Syndrome. Acta Paediatr 1995, 84:909-12.
- [23]Invernizzi P, Miozzo M, Selmi C, Persani L, Battezzati PM, Zuin M, et al.: X chromosome monosomy: a common mechanism for autoimmune diseases. J Immunol 2005, 175:575-8.
- [24]Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, Annerén G: Thyroid dysfunction in Down’s syndrome: relation to age and thyroid autoimmunity. Arch Dis Child 1998, 79:242-5.
- [25]Popova G, Paterson WF, Brown A, Donaldson MD: Hashimoto’s thyroiditis in Down’s syndrome: clinical presentation and evolution. Horm Res 2008, 70:278-84.
- [26]Jørgensen KT, Rostgaard K, Bache I, Biggar RJ, Nielsen NM, Tommerup N, et al.: Autoimmune diseases in women with Turner’s syndrome. Arthritis Rheum 2010, 62:658-66.
- [27]Shalitin S, Phillip M: Autoimmune thyroiditis in infants with Down’s syndrome. J Pediatr Endocrinol Metab 2002, 15:649-52.
- [28]Bakalov VK, Gutin L, Cheng CM, Zhou J, Sheth P, Shah K, et al.: Autoimmune disorders in women with turner syndrome and women with karyotypically normal primary ovarian insufficiency. J Autoimmun 2012, 38:315-21.
- [29]Chiovato L, Larizza D, Bendinelli G, Tonacchera M, Marinó M, Mammoli C, et al.: Autoimmune hypothyroidism and hyperthyroidism in patients with Turner’s syndrome. Eur J Endocrinol 1996, 134:568-75.
- [30]Elsheikh M, Wass JA, Conway GS: Autoimmune thyroid syndrome in women with Turner’s syndrome–the association with karyotype. Clin Endocrinol 2001, 55:223-6.
- [31]Gawlik A, Gawlik T, Januszek-Trzciakowska A, Patel H, Malecka-Tendera E: Incidence and dynamics of thyroid dysfunction and thyroid autoimmunity in girls with Turner’s syndrome: a long-term follow-up study. Horm Res Paediatr 2011, 76:314-20.
- [32]El-Mansoury M, Bryman I, Berntorp K, Hanson C, Wilhelmsen L, Landin-Wilhelmsen K: Hypothyroidism is common in turner syndrome: results of a five-year follow-up. J Clin Endocrinol Metab 2005, 90:2131-5.
- [33]Gravholt CH, Hjerrild BE, Mosekilde L, Hansen TK, Rasmussen LM, Frystyk J, et al.: Body composition is distinctly altered in Turner syndrome: relations to glucose metabolism, circulating adipokines, and endothelial adhesion molecules. Eur J Endocrinol 2006, 155:583-92.
- [34]Pellegrini FP, Marinoni M, Frangione V, Tedeschi A, Gandini V, Ciglia F, et al.: Down syndrome, autoimmunity and T regulatory cells. Clin Exp Immunol 2012, 169:238-43.
- [35]Ram G, Chinen J: Infections and immunodeficiency in Down syndrome. Clin Exp Immunol 2011, 164:9-16.
- [36]Ludgate M, Emerson CH: Metamorphic thyroid autoimmunity. Thyroid 2008, 18:1035-7.
- [37]Wasniewska M, Corrias A, Arrigo T, Lombardo F, Salerno M, Mussa A, et al.: Frequency of Hashimoto’s thyroiditis antecedents in the history of children and adolescents with graves’ disease. Horm Res Paediatr 2010, 73:473-6.
- [38]Kamath C, Young S, Kabelis K, Sanders J, Adlan MA, Furmaniak J, et al.: Thyrotrophin receptor antibody characteristics in a woman with long-standing Hashimoto’s who developed Graves’ disease and pretibial myxoedema. Clin Endocrinol 2012, 77:465-70.
- [39]Troisi A, Novati P, Sali L, Colzani M, Monti G, Cardillo C, et al.: Graves’ thyrotoxicosis following Hashimoto’s thyroiditis. Res Rep Endocr Disord 2013, 3:13-5.
- [40]Champion B, Gopinath B, Ma G, El-Kaissi S, Wall JR: Conversion to Graves’ hyperthyroidism in a patient with hypothyroidism due to Hashimoto’s thyroiditis documented by real-time thyroid ultrasonography. Thyroid 2008, 18:1135-7.
- [41]Aversa T, Salerno M, Radetti G, Faienza MF, Iughetti L, Corrias A, et al. Peculiarities of presentation and evolution over time of Hashimoto’s thyroiditis in children and adolescents with Down’s syndrome. Hormones 2015 in press, accepted for publication on February, 19, 2015.
- [42]Niedziela M: Subclinical hypothyroidism: dilemmas in the treatment of children. J Endocrinol Invest 2007, 30:529-31.
- [43]Wasniewska M, Salerno M, Cassio A, Corrias A, Aversa T, Zirilli G, et al.: Prospective evaluation of the natural course of idiopathic subclinical hypothyroidism in childhood and adolescence. Eur J Endocrinol 2009, 160:417-21.
- [44]De Luca F, Wasniewska M, Zirilli G, Aversa T, Arrigo T: At the end of a two-year follow-up elevated TSH levels normalize or remain unchanged in most the children with subclinical hypothyroidism. Ital J Pediatr 2010, 36:11. BioMed Central Full Text
- [45]Cerbone M, Bravaccio C, Capalbo D, Polizzi M, Wasniewska M, Cioffi D, et al.: Linear growth and intellectual outcome in children with long-term idiopathic subclinical hypothyroidism. Eur J Endocrinol 2011, 164:591-7.
- [46]Wasniewska M, Corrias A, Salerno M, Mussa A, Capalbo D, Messina MF, et al.: Thyroid function patterns at Hashimoto’s thyroiditis presentation in childhood and adolescence are mainly conditioned by patients’ age. Horm Res Paediatr 2012, 78:232-6.
- [47]De Luca F, Corica D, Pitrolo E, Santucci S, Romeo M: Idiopathic and mild subclinical hypothyroidism in childhood: clinical management. Minerva Pediatr 2014, 66:63-8.
- [48]Monzani A, Prodam F, Rapa A, Moia S, Agarla V, Bellone S, et al.: Endocrine disorders in childhood and adolescence. Natural history of subclinical hypothyroidism in children and adolescents and potential effects of replacement therapy: a review. Eur J Endocrinol 2012, 168:R1-11.
- [49]Radetti G, Maselli M, Buzi F, Corrias A, Mussa A, Cambiaso P, et al.: The natural history of the normal/mild elevated TSH serum levels in children and adolescents with Hashimoto’s thyroiditis and isolated hyperthyrotropinaemia: a 3-year follow-up. Clin Endocrinol 2012, 76:394-8.
- [50]Bona G, Prodam F, Monzani A: Subclinical hypothyroidism in children: natural history and when to treat. J Clin Res Pediatr Endocrinol 2013, 5(Suppl. 1):23-8.
- [51]Salzano G, Lombardo F, Arrigo T, Sferlazzas C, Wasniewska M, Valenzise M, et al.: Association of five autoimmune diseases in a young woman with Down’s syndrome. J Endocrinol Invest 2010, 33:202-3.
- [52]Ban Y, Tozaki T, Tobe T, Ban Y, Jacobson EM, Concepcion ES, et al.: The regulatory T cell gene FOXP3 and genetic susceptibility to thyroid autoimmunity: an association analysis in Caucasian and Japanese cohorts. J Autoimmun 2007, 28:201-7.
- [53]Giménez-Barcons M, Casteràs A, Armengol Mdel P, Porta E, Correa PA, Marín A, et al.: Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. J Immunol 2014, 193:3872-9.