Health  Vol.6 No.12 , June 2014
Epidemiological, Pathophysiological and Clinical Peculiarities of Graves’ Disease in Children with Down and Turner Syndrome: A Literature Review
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.
Cite this paper: Wasniewska, M. , Aversa, T. , De Luca, F. , Valenzise, M. , Messina, M. and Lombardo, F. (2014) Epidemiological, Pathophysiological and Clinical Peculiarities of Graves’ Disease in Children with Down and Turner Syndrome: A Literature Review. Health, 6, 1447-1452. doi: 10.4236/health.2014.612178.

[1]   Williamson, S. and Greene, S.A. (2010) Incidence of Thyrotoxicosis in Childhood: A National Population Based Study in the UK and Ireland. Clinical Endocrinology (Oxf), 72, 358-363.

[2]   Cooper, G.S. and Stroehla, B.C. (2003) The Epidemiology of Autoimmune Diseases. Autoimmunity Reviews, 2, 119-125.

[3]   Tozzoli, R. and Perini, R. (2007) Malattie autoimmuni nei primi anni di vita: dai sintomi alla diagnosi di laboratorio. La Rivista Italiana della Medicina di Laboratorio—Italian Journal of Laboratory Medicine, 3, 45-50.

[4]   Hemminki, K., Li, X., Sundquist, J. and Sundquist, K. (2010) The Epidemiology of Graves’ Disease: Evidence of a Genetic and an Environmental Contribution. Journal of Autoimmunity, 34, J307-313.

[5]   Larizza, D., Calcaterra, V. and Martinetti, M. (2009) Autoimmune stigmata in Turner syndrome: when lacks an X chromosome. Journal of Autoimmunity, 33, 25-30.

[6]   Bakalov, V.K., Gutin, L., Cheng, C.M., Zhou, J., Sheth, P., Shah, K., Arepalli, S., Vanderhoof, V., Nelson, L.M. and Bondy, C.A. (2012) Autoimmune Disorders in Women with Turner Syndrome and Women with Karyotypically Normal Primary Ovarian Insufficiency. Journal of Autoimmunity, 38, 315-321.

[7]   Lleo, A., Moroni, L., Caliari, L. and Invernizzi, P. (2012) Autoimmunity and Turner’s Syndrome. Autoimmunity Reviews, 11, A538-543.

[8]   Livadas, S., Xekouki, P., Fouka, F., Kanaka-Gantenbein, C., Kaloumenou, I., Mavrou, A., Constantinidou, N. and Dacou-Voutetakis, C. (2005) Prevalence of Thyroid Dysfunction in Turner’s Syndrome: A Long-Term Follow-Up Study and Brief Literature Review. Thyroid, 15, 1061-1066.

[9]   Fukuda, I., Hizuka, N., Kurimoto, M., Morita, J., Tanaka, S., Yamakado, Y. and Takano, K. (2009) Autoimmune Thyroid Diseases in 65 Japanese Women with Turner Syndrome. Endocrine Journal, 56, 983-986.

[10]   Wasniewska, M., Corrias, A., Arrigo, T., Lombardo, F., Salerno, M., Mussa, A., Vigone, M.C. and De Luca, F. (2010) Frequency of Hashimoto’s Thyroiditis Antecedents in the History of Children and Adolescents with Graves’ Disease. Hormone Research in Paediatrics, 73, 473-476.

[11]   Valenzise, M., Aversa, T., Corrias, A., Mazzanti, L., Cappa, M., Ubertini, G., Scarano, E., Mussa, A., Messina, M.F., De Luca, F. and Wasniewska, M. (2014) Epidemiology, Presentation and Long-Term Evolution of Graves’ Disease in Children, Adolescents and Young Adults with Turner Syndrome. Hormone Research in Paediatrics. (Epub ahead of print).

[12]   Radetti, G., Mazzanti, L., Paganini, C., Bernasconi, S., Russo, G., Rigon, F. and Cacciari, E. (1995) Frequency, Clinical and Laboratory Features of Thyroiditis in Girls with Turner’s Syndrome. The Italian Study Group for Turner’s Syndrome. Acta Paediatrica, 84, 09-12.

[13]   Invernizzi, P., Miozzo, M., Selmi, C., Persani, L., Battezzati, P.M., Zuin, M., Lucchi, S., Meroni, P.L., Marasini, B., Zeni, S., Watnik, M., Grati, F.R., Simoni, G., Gershwin, M.E. and Podda, M. (2005) X Chromosome Monosomy: A Common Mechanism for Autoimmune Diseases. Journal of Immunology, 175, 575-578.

[14]   McGrogan, A., Seaman, H.E., Wright, J.W. and de Vries, C.S. (2008) The Incidence of Autoimmune Thyroid Disease: A Systematic Review of the Literature. Clinical Endocrinology (Oxf), 69, 687-696.

[15]   El-Mansoury, M., Bryman, I., Berntorp, K., Hanson, C., Wilhelmsen, L. and Landin-Wilhelmsen, K. (2005) Hypothyroidism Is Common in Turner Syndrome: Results of a Five-Year Follow-Up. Journal of Clinical Endocrinology and Metabolism, 90, 2131-2135.

[16]   Gawlik, A., Gawlik, T., Januszek-Trzciakowska, A., Patel, H. and Malecka-Tendera, E. (2011) Incidence and Dynamics of Thyroid Dysfunction and Thyroid Autoimmunity in Girls with Turner’s Syndrome: A Long-Term Follow-Up Study. Hormone Research in Paediatrics, 76, 314-320.

[17]   de Kerdanet, M., Lucas, J., Lemee, F. and Lecornu, M. (1994) Turner’s Syndrome with X-Isochromosome and Hashimoto’s Thyroiditis. Clinical Endocrinology, 41, 673-676.

[18]   Chiovato, L., Larizza, D., Bendinelli, G., Tonacchera, M., Marinó, M., Mammoli, C., Lorini, R., Severi, F. and Pinchera, A. (1996) Autoimmune Hypothyroidism and Hyperthyroidism in Patients with Turner’s Syndrome. European Journal of Endocrinology, 134, 568-575.

[19]   Elsheikh, M., Wass, J.A. and Conway, G.S. (2001) Autoimmune Thyroid Syndrome in Women with Turner’s Syndrome—The Association with Karyotype. Clinical Endocrinology, 55, 223-226.

[20]   Goldacre, M.J., Wotton, C.J., Scagroati, V. and Yeates, D. (2004) Cancers and Immune Related Diseases Associated with Down’s Syndrome: A Record Linkage Study. Archives of Disease in Childhood, 89, 1014-1017.

[21]   Karlsson, B., Gustafsson, J., Hedov, G., Ivarsson, S.A. and Annerén, G. (1998) Thyroid Dysfunction in Down’s Syndrome: Relation to Age and Thyroid Autoimmunity. Archives of Disease in Childhood, 79, 242-245.

[22]   Castro Lobera, A. and Linares García-Valdecasas, R. (1999) A Thyroid Function Study in Subjects with Down’s Syndrome. Atencion Primaria, 23, 87-90.

[23]   Gruñeiro de Papendieck, L., Chiesa, A., Bastida, M.G., Alonso, G., Finkielstain, G. and Heinrich, J.J. (2002) Thyroid Dysfunction and High Thyroid Stimulating Hormone Levels in Children with Down’s Syndrome. Journal of Pediatric Endocrinology and Metabolism, 15, 1543-1548.

[24]   Dias, V.M., Nunes, J.C., Araújo, S.S. and Goulart, E.M. (2005) Etiological Assessment of Hyperthyrotropinemia in Children with Down’s Syndrome. Journal of Pediatrics, 81, 79-84.

[25]   Goday-Arno, A., Cerda-Esteva, M., Flores-Le-Roux, J.A., Chillaron-Jordan, J.J., Corretger, J.M. and Cano-Pérez, J.F. (2009) Hyperthyroidism in a Population with Down Syndrome (DS). Clinical Endocrinology, 71, 110-114.

[26]   Jørgensen, K.T., Rostgaard, K., Bache, I., Biggar, R.J., Nielsen, N.M., Tommerup, N. and Frisch, M. (2010) Auto-immune Diseases in Women with Turner’s Syndrome. Arthritis & Rheumatism, 62, 658-666.

[27]   Gravholt, C.H., Hjerrild, B.E., Mosekilde, L., Hansen, T.K., Rasmussen, L.M., Frystyk, J., Flyvbjerg, A. and Christiansen, J.S. (2006) Body Composition Is Distinctly Altered in Turner Syndrome: Relations to Glucose Metabolism, Circulating Adipokines, and Endothelial Adhesion Molecules. European Journal of Endocrinology, 155, 583-592.

[28]   Pellegrini, F.P., Marinoni, M., Frangione, V., Tedeschi, A., Gandini, V., Ciglia, F., Mortara, L., Accolla, R.S. and Nespoli, L. (2012) Down Syndrome, Autoimmunity and T Regulatory Cells. Clinical and Experimental Immunology, 169, 238-243.

[29]   Ram, G. and Chinen, J. (2011) Infections and Immunodeficiency in Down Syndrome. Clinical and Experimental Immunology, 164, 9-16.

[30]   Aversa, T., Lombardo, F., Corrias, A., Salerno, M., De Luca, F. and Wasniewska, M. (2014) In Young Patients with Turner or Down Syndrome, Graves’ Disease Presentation Is often Preceded by Hashimoto’s Thyroiditis. Thyroid, 24, 744-747.

[31]   Ludgate, M. and Emerson, C.H. (2008) Metamorphic Thyroid Autoimmunity. Thyroid, 18, 1035-1037.

[32]   Wasniewska, M., Corrias, A., Messina, M.F., Crisafulli, G., Salzano, G., Valenzise, M., Mussa, A. and De Luca, F. (2010) Graves’ Disease Prevalence in a Young Population with Turner Syndrome. Journal of Endocrinological Investigation, 33, 69-70.

[33]   Troisi, A., Novati, P., Sali, L., Colzani, M., Monti, G., Cardillo, C. and Tesauro, M. (2013) Graves’ Thyrotoxicosis Following Hashimoto’s Thyroiditis. Research and Reports in Endocrine Disorders, 3, 13-15.

[34]   De Luca, F., Corrias, A., Salerno, M., Wasniewska, M., Gastaldi, R., Cassio, A., Mussa, A., Aversa, T., Radetti, G. and Arrigo, T. (2010) Peculiarities of Graves’ Disease in Children and Adolescents with Down’s Syndrome. European Journal of Endocrinology, 162, 591-595.

[35]   Salzano, G., Lombardo, F., Arrigo, T., Sferlazzas, C., Wasniewska, M., Valenzise, M. and De Luca, F. (2010) Association of Five Autoimmune Diseases in a Young Woman with Down’s Syndrome. Journal of Endocrinological Investigation, 33, 202-203.