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Published in: Italian Journal of Pediatrics 1/2018

Open Access 01-12-2018 | Commentary

Epidemiological and clinical aspects of autoimmune thyroid diseases in children with Down’s syndrome

Authors: Tommaso Aversa, Giuseppe Crisafulli, Giuseppina Zirilli, Filippo De Luca, Romina Gallizzi, Mariella Valenzise

Published in: Italian Journal of Pediatrics | Issue 1/2018

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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.
Literature
1.
go back to reference Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS, et al. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol. 2006;76:747–56.CrossRefPubMed Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS, et al. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol. 2006;76:747–56.CrossRefPubMed
2.
go back to reference Iughetti L, Lucaccioni L, Fugetto F, Mason A, Predieri B. Thyroid function in down syndrome. Expert Rev Endocrinol Metab. 2015;10:525–32.CrossRef Iughetti L, Lucaccioni L, Fugetto F, Mason A, Predieri B. Thyroid function in down syndrome. Expert Rev Endocrinol Metab. 2015;10:525–32.CrossRef
3.
go back to reference Aversa T, Valenzise M, Corrias A, Salerno M, Iughetti L, Tessaris D, et al. In children with autoimmune thyroid diseases the association with down syndrome can modify the clustering of extra-thyroidal autoimmune disorders. J Pediatr Endocrinol Metab. 2016;29:1041–6.CrossRefPubMed Aversa T, Valenzise M, Corrias A, Salerno M, Iughetti L, Tessaris D, et al. In children with autoimmune thyroid diseases the association with down syndrome can modify the clustering of extra-thyroidal autoimmune disorders. J Pediatr Endocrinol Metab. 2016;29:1041–6.CrossRefPubMed
4.
go back to reference Kinik ST, Ozçay F, Varan B. Type I diabetes mellitus, Hashimoto's thyroiditis and celiac disease in an adolescent with down syndrome. Pediatr Int. 2006;48:433–5.CrossRefPubMed Kinik ST, Ozçay F, Varan B. Type I diabetes mellitus, Hashimoto's thyroiditis and celiac disease in an adolescent with down syndrome. Pediatr Int. 2006;48:433–5.CrossRefPubMed
5.
go back to reference Lämmer C, Weimann E. Early onset of type I diabetes mellitus, Hashimoto's thyroiditis and celiac disease in a 7-yr-old boy with Down's syndrome. Pediatr Diabetes. 2008;9:423–5.CrossRefPubMed Lämmer C, Weimann E. Early onset of type I diabetes mellitus, Hashimoto's thyroiditis and celiac disease in a 7-yr-old boy with Down's syndrome. Pediatr Diabetes. 2008;9:423–5.CrossRefPubMed
6.
go back to reference 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 Investig. 2010;33:202–3.CrossRef 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 Investig. 2010;33:202–3.CrossRef
7.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
8.
go back to reference 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;14:410–6.PubMed 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;14:410–6.PubMed
9.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
10.
go back to reference Aitken RJ, Mehers KL, Williams AJ, Brown J, Bingley PJ, Holl RW, et al. Early-onset, coexisting autoimmunity and decreased HLA-mediated susceptibility are the characteristics of diabetes in down syndrome. Diabetes Care. 2013;36:1181–5.CrossRefPubMedPubMedCentral Aitken RJ, Mehers KL, Williams AJ, Brown J, Bingley PJ, Holl RW, et al. Early-onset, coexisting autoimmunity and decreased HLA-mediated susceptibility are the characteristics of diabetes in down syndrome. Diabetes Care. 2013;36:1181–5.CrossRefPubMedPubMedCentral
11.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
12.
go back to reference Jørgensen KT, Rostgaard K, Bache I, Biggar RJ, Nielsen NM, Tommerup N, Frisch M. Autoimmune diseases in women with Turner's syndrome. Arthritis Rheum. 2010;62:658–66.CrossRefPubMed Jørgensen KT, Rostgaard K, Bache I, Biggar RJ, Nielsen NM, Tommerup N, Frisch M. Autoimmune diseases in women with Turner's syndrome. Arthritis Rheum. 2010;62:658–66.CrossRefPubMed
13.
go back to reference Tozzoli R, Perini R. Malattie autoimmuni nei primi anni di vita: dai sintomi alla diagnosi di laboratorio. La Rivista Italiana della Medicina di Laboratorio. 2007;3:45–50. Tozzoli R, Perini R. Malattie autoimmuni nei primi anni di vita: dai sintomi alla diagnosi di laboratorio. La Rivista Italiana della Medicina di Laboratorio. 2007;3:45–50.
14.
go back to reference 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.CrossRef 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.CrossRef
15.
16.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
17.
go back to reference Aversa T, Lombardo F, Valenzise M, Messina MF, Sferlazzas C, Salzano G, et al. Peculiarities of autoimmune thyroid diseases in children with turner or down syndrome: an overview. Ital J Pediatr. 2015;41:39.CrossRefPubMedPubMedCentral Aversa T, Lombardo F, Valenzise M, Messina MF, Sferlazzas C, Salzano G, et al. Peculiarities of autoimmune thyroid diseases in children with turner or down syndrome: an overview. Ital J Pediatr. 2015;41:39.CrossRefPubMedPubMedCentral
18.
go back to reference Carnicer J, Farré C, Varea V, Vilar P, Moreno J, Artigas J. Prevalence of coeliac disease in Down's syndrome. Eur J Gastroenterol Hepatol. 2001;13:263–7.CrossRefPubMed Carnicer J, Farré C, Varea V, Vilar P, Moreno J, Artigas J. Prevalence of coeliac disease in Down's syndrome. Eur J Gastroenterol Hepatol. 2001;13:263–7.CrossRefPubMed
19.
go back to reference Graber E, Chacko E, Regelmann MO, Costin G, Rapaport R. Down syndrome and thyroid function. Endocrinol Metab Clin N Am. 2012;41:735–45.CrossRef Graber E, Chacko E, Regelmann MO, Costin G, Rapaport R. Down syndrome and thyroid function. Endocrinol Metab Clin N Am. 2012;41:735–45.CrossRef
20.
go back to reference King K, O'Gorman C, Gallagher S. Thyroid dysfunction in children with down syndrome: a literature review. Ir J Med Sci. 2014;183:1–6.CrossRefPubMed King K, O'Gorman C, Gallagher S. Thyroid dysfunction in children with down syndrome: a literature review. Ir J Med Sci. 2014;183:1–6.CrossRefPubMed
22.
go back to reference 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.CrossRefPubMed 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.CrossRefPubMed
23.
go back to reference Valenzise M, Meloni A, Betterle C, Giometto B, Autunno M, Mazzeo A, et al. Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy. Eur J Pediatr. 2009;168:237–40.CrossRefPubMed Valenzise M, Meloni A, Betterle C, Giometto B, Autunno M, Mazzeo A, et al. Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy. Eur J Pediatr. 2009;168:237–40.CrossRefPubMed
24.
go back to reference Skogberg G, Lundberg V, Lindgren S, Gudmundsdottir J, Sandström K, Kämpe O, et al. Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype. J Immunol. 2014;193:2187–95.CrossRefPubMedPubMedCentral Skogberg G, Lundberg V, Lindgren S, Gudmundsdottir J, Sandström K, Kämpe O, et al. Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype. J Immunol. 2014;193:2187–95.CrossRefPubMedPubMedCentral
25.
go back to reference Wasniewska M, Corrias A, Salerno M, Lombardo F, Aversa T, Mussa A, et al. Outcomes of children with hashitoxicosis. Horm Res Paediatr. 2012;77:36–40.CrossRefPubMed Wasniewska M, Corrias A, Salerno M, Lombardo F, Aversa T, Mussa A, et al. Outcomes of children with hashitoxicosis. Horm Res Paediatr. 2012;77:36–40.CrossRefPubMed
26.
go back to reference De Luca F, Santucci S, Corica D, Pitrolo E, Romeo M, Aversa T. Hashimoto's thyroiditis in childhood: presentation modes and evolution over time. Ital J Pediatr. 2013;39:8.CrossRefPubMedPubMedCentral De Luca F, Santucci S, Corica D, Pitrolo E, Romeo M, Aversa T. Hashimoto's thyroiditis in childhood: presentation modes and evolution over time. Ital J Pediatr. 2013;39:8.CrossRefPubMedPubMedCentral
27.
go back to reference Claret C, Goday A, Benaiges D, Chillarón JJ, Flores JA, Hernandez E, et al. Subclinical hypothyroidism in the first years of life in patients with down syndrome. Pediatr Res. 2013;73:674–8.CrossRefPubMed Claret C, Goday A, Benaiges D, Chillarón JJ, Flores JA, Hernandez E, et al. Subclinical hypothyroidism in the first years of life in patients with down syndrome. Pediatr Res. 2013;73:674–8.CrossRefPubMed
28.
go back to reference Wasniewska M, Aversa T, Salerno M, Corrias A, Messina MF, Mussa A, et al. Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology. Eur J Endocrinol. 2015;173:801–8.CrossRefPubMed Wasniewska M, Aversa T, Salerno M, Corrias A, Messina MF, Mussa A, et al. Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology. Eur J Endocrinol. 2015;173:801–8.CrossRefPubMed
30.
go back to reference McLachlan SM, Rapoport B. Thyrotropin-blocking autoantibodies and thyroid-stimulating autoantibodies: potential mechanisms involved in the pendulum swinging from hypothyroidism to hyperthyroidism or vice versa. Thyroid. 2013;23:14–24.CrossRefPubMedPubMedCentral McLachlan SM, Rapoport B. Thyrotropin-blocking autoantibodies and thyroid-stimulating autoantibodies: potential mechanisms involved in the pendulum swinging from hypothyroidism to hyperthyroidism or vice versa. Thyroid. 2013;23:14–24.CrossRefPubMedPubMedCentral
31.
go back to reference Aversa T, Valenzise M, Salerno M, Corrias A, Iughetti L, Radetti G, et al. Metamorphic thyroid autoimmunity in down syndrome: from Hashimoto’s thyroiditis to Graves’ disease and beyond. Ital J Pediatr. 2015;41:87.CrossRefPubMedPubMedCentral Aversa T, Valenzise M, Salerno M, Corrias A, Iughetti L, Radetti G, et al. Metamorphic thyroid autoimmunity in down syndrome: from Hashimoto’s thyroiditis to Graves’ disease and beyond. Ital J Pediatr. 2015;41:87.CrossRefPubMedPubMedCentral
32.
go back to reference Valenzise M, Aversa T, Zirilli G, Salzano G, Corica D, Santucci S, De Luca F. Analysis of the factors affecting the evolution over time of subclinical hypothyroidism in children. Ital J Pediatr. 2017;43:2.CrossRefPubMedPubMedCentral Valenzise M, Aversa T, Zirilli G, Salzano G, Corica D, Santucci S, De Luca F. Analysis of the factors affecting the evolution over time of subclinical hypothyroidism in children. Ital J Pediatr. 2017;43:2.CrossRefPubMedPubMedCentral
Metadata
Title
Epidemiological and clinical aspects of autoimmune thyroid diseases in children with Down’s syndrome
Authors
Tommaso Aversa
Giuseppe Crisafulli
Giuseppina Zirilli
Filippo De Luca
Romina Gallizzi
Mariella Valenzise
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2018
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/s13052-018-0478-9

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