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  3. Thyroid dysfunctions and trisomy 21
Medical and paramedical


Thyroid Dysfunctions

1 in 4 children and more than 1 in 2 adults with trisomy 21 will present a thyroid pathology, usually hypothyroidism, during their lifetime! Either congenital or acquired, and most often of autoimmune origin, you need to know how to screen for them, about their specific progression and, of course, how to treat them! To understand these pathologies thoroughly is to preserve the development potential of patients with trisomy 21 and ensure they have a better quality of life.


In this video and accompanying technical sheet, Dr. Hervé Walti, a pediatrician at the Jérôme Lejeune Institute, tells you more. 

See below for the presentation accompanying this video on “thyroid dysfunction”.

  • Alexander M, Petri H, Ding Y, Wandel C, Khwaja O, Foskett N. Morbidity and medication in a large population of individuals with Down syndrome compared to the general population. Dev Med Child Neurol. 2016 Mar;58(3):246-54. doi: 10.1111/dmcn.12868. Epub 2015 Aug 18. PMID: 26282180.
  • Amr NH. Thyroid Disorders in Subjects with Down Syndrome: An Update. Acta Biomed. 2018 Mar 27;89(1):132-139. doi: 10.23750/abm.v89i1.7120. PMID: 29633736; PMCID: PMC6357620.
  • Araya P, Waugh KA, Sullivan KD, Núñez NG, Roselli E, Smith KP, Granrath RE, Rachubinski AL, Enriquez Estrada B, Butcher ET, Minter R, Tuttle KD, Bruno TC, Maccioni M, Espinosa JM. Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity. Proc Natl Acad Sci U S A. 2019 Nov 26;116(48):24231-24241. doi: 10.1073/pnas.1908129116. Epub 2019 Nov 7. PMID: 31699819; PMCID: PMC6883781.
  • Aversa T, Corica D, Zirilli G, Pajno GB, Salzano G, De Luca F, Wasniewska M. Phenotypic Expression of Autoimmunity in Children With Autoimmune Thyroid Disorders. Front Endocrinol (Lausanne). 2019 Jul 12;10:476. doi: 10.3389/fendo.2019.00476. PMID: 31354636; PMCID: PMC6640617.
  • Aversa T, Crisafulli G, Zirilli G, De Luca F, Gallizzi R, Valenzise M. Epidemiological and clinical aspects of autoimmune thyroid diseases in children with Down’s syndrome. Ital J Pediatr. 2018 Mar 21;44(1):39. doi: 10.1186/s13052-018-0478-9. PMID: 29562915; PMCID: PMC5863361.
  • Aversa T, Salerno M, Radetti G, Faienza MF, Iughetti L, Corrias A, Predieri B, Mussa A, Mirabelli S, De Luca F, Wasniewska M. Peculiarities of presentation and evolution over time of Hashimoto’s thyroiditis in children and adolescents with Down’s syndrome. Hormones (Athens). 2015 Jul-Sep;14(3):410-6. doi: 10.14310/horm.2002.1574. PMID: 26188225.
  • Claret C, Goday A, Benaiges D, Chillarón JJ, Flores JA, Hernandez E, Corretger JM, Cano JF. Subclinical hypothyroidism in the first years of life in patients with Down syndrome. Pediatr Res. 2013 May;73(5):674-8. doi: 10.1038/pr.2013.26. Epub 2013 Feb 12. PMID: 23403803.
  • Crisafulli G, Aversa T, Zirilli G, Pajno GB, Corica D, De Luca F, Wasniewska M. Subclinical Hypothyroidism in Children: When a Replacement Hormonal Treatment Might Be Advisable. Front Endocrinol (Lausanne). 2019 Feb 25;10:109. doi: 10.3389/fendo.2019.00109. PMID: 30858827; PMCID: PMC6397829.
  • De Luca F, Corrias A, Salerno M, Wasniewska M, Gastaldi R, Cassio A, Mussa A, Aversa T, Radetti G, Arrigo T. Peculiarities of Graves’ disease in children and adolescents with Down’s syndrome. Eur J Endocrinol. 2010 Mar;162(3):591-5. doi: 10.1530/EJE-09-0751. Epub 2009 Dec 2. PMID: 19955260.
  • Erlichman I, Mimouni FB, Erlichman M, Schimmel MS. Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome. J Pediatr. 2016 Jun;173:165-8. doi: 10.1016/j.jpeds.2016.02.039. Epub 2016 Mar 16. PMID: 26995701.
  • Ferrari M, Stagi S. Autoimmunity and Genetic Syndromes: A Focus on Down Syndrome. Genes (Basel). 2021 Feb 13;12(2):268. doi: 10.3390/genes12020268. PMID: 33668420; PMCID: PMC7918365.
  • Giménez-Barcons M, Casteràs A, Armengol Mdel P, Porta E, Correa PA, Marín A, Pujol-Borrell R, Colobran R. 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 Oct 15;193(8):3872-9. doi: 10.4049/jimmunol.1400223. Epub 2014 Sep 12. PMID: 25217160.
  • Javed Z, Sathyapalan T. Levothyroxine treatment of mild subclinical hypothyroidism: a review of potential risks and benefits. Ther Adv Endocrinol Metab. 2016 Feb;7(1):12-23. doi: 10.1177/2042018815616543. PMID: 26885359; PMCID: PMC4740939.
  • Jonklaas J, Bianco AC, Bauer AJ, Burman KD, Cappola AR, Celi FS, Cooper DS, Kim BW, Peeters RP, Rosenthal MS, Sawka AM; American Thyroid Association Task Force on Thyroid Hormone Replacement. Guidelines for the treatment of hypothyroidism: prepared by the american thyroid association task force on thyroid hormone replacement. Thyroid. 2014 Dec;24(12):1670-751. doi: 10.1089/thy.2014.0028. PMID: 25266247; PMCID: PMC4267409.
  • Kariyawasam D, Carré A, Luton D, Polak M. Down syndrome and nonautoimmune hypothyroidisms in neonates and infants. Horm Res Paediatr. 2015;83(2):126-31. doi: 10.1159/000370004. Epub 2015 Jan 9. PMID: 25592247.
  • Kariyawasam D, Rachdi L, Carré A, Martin M, Houlier M, Janel N, Delabar JM, Scharfmann R, Polak M. DYRK1A BAC transgenic mouse: a new model of thyroid dysgenesis in Down syndrome. Endocrinology. 2015 Mar;156(3):1171-80. doi: 10.1210/en.2014-1329. Epub 2014 Dec 9. PMID: 25490145.
  • Kyritsi EM, Kanaka-Gantenbein C. Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence. Front Endocrinol (Lausanne). 2020 Aug 19;11:543. doi: 10.3389/fendo.2020.00543. PMID: 32973676; PMCID: PMC7466763.
  • Luton D, Azria E, Polak M, Carré A, Vuillard E, Delezoide AL, Guibourdenche J. Thyroid function in fetuses with down syndrome. Horm Res Paediatr. 2012;78(2):88-93. doi: 10.1159/000341149. Epub 2012 Aug 14. PMID: 22907384.
  • Marchal JP, Maurice-Stam H, Ikelaar NA, Klouwer FC, Verhorstert KW, Witteveen ME, Houtzager BA, Grootenhuis MA, van Trotsenburg AS. Effects of early thyroxine treatment on development and growth at age 10.7 years: follow-up of a randomized placebo-controlled trial in children with Down’s syndrome. J Clin Endocrinol Metab. 2014 Dec;99(12):E2722-9. doi: 10.1210/jc.2014-2849. PMID: 25243574.
  • Marcovecchio GE, Bortolomai I, Ferrua F, Fontana E, Imberti L, Conforti E, Amodio D, Bergante S, Macchiarulo G, D’Oria V, Conti F, Di Cesare S, Fousteri G, Carotti A, Giamberti A, Poliani PL, Notarangelo LD, Cancrini C, Villa A, Bosticardo M. Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to dysregulation in T Cell Development. Front Immunol. 2019 Mar 15;10:447. doi: 10.3389/fimmu.2019.00447. PMID: 30949166; PMCID: PMC6436073.
  • Meyerovitch J, Antebi F, Greenberg-Dotan S, Bar-Tal O, Hochberg Z. Hyperthyrotropinaemia in untreated subjects with Down’s syndrome aged 6 months to 64 years: a comparative analysis. Arch Dis Child. 2012 Jul;97(7):595-8. doi: 10.1136/archdischild-2011-300806. Epub 2012 Apr 25. PMID: 22535238.
  • Mircher C, Sacco S, Bouis C, Gallard J, Pichot A, Le Galloudec E, Cieuta C, Marey I, Greiner-Mahler O, Dorison N, Gambarini A, Stora S, Durand S, Polak M, Baruchel A, Schlumberger E, Dewailly J, Azar-Kolakez A, Guéant-Rodriguez RM, Guéant JL, Borderie D, Bonnefont-Rousselot D, Blondiaux E, Ravel A, Sturtz FG. Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial. Genet Med. 2020 Jan;22(1):44-52. doi: 10.1038/s41436-019-0597-8. Epub 2019 Jul 8. PMID: 31281181.
  • Pierce MJ, LaFranchi SH, Pinter JD. Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome
. Horm Res Paediatr. 2017;87(3):170-178. doi: 10.1159/000457952. Epub 2017 Mar 3. PMID: 28259872; PMCID: PMC5483988.
  • Prasher VP. Down syndrome and thyroid disorders: a review. Downs Syndr Res Pract. 1999 Aug;6(1):25-42. doi: 10.3104/reviews.95. PMID: 10890245.
  • Purdy IB, Singh N, Brown WL, Vangala S, Devaskar UP. Revisiting early hypothyroidism screening in infants with Down syndrome. J Perinatol. 2014 Dec;34(12):936-40. doi: 10.1038/jp.2014.116. Epub 2014 Jun 19. PMID: 24945161; PMCID: PMC4255086.
  • Sanyal D, Bhattacharjee K. High Thyroid-stimulating Hormone Level in Down’s Syndrome: A Mere Resetting of Hypothalamopituitary Axis in Subclinical Hypothyroidism? Indian J Endocrinol Metab. 2020 Sep-Oct;24(5):406-409. doi: 10.4103/ijem.IJEM_422_20. Epub 2020 Nov 9. PMID: 33489845; PMCID: PMC7810049.
  • van Trotsenburg AS, Vulsma T, van Rozenburg-Marres SL, van Baar AL, Ridder JC, Heymans HS, Tijssen JG, de Vijlder JJ. The effect of thyroxine treatment started in the neonatal period on development and growth of two-year-old Down syndrome children: a randomized clinical trial. J Clin Endocrinol Metab. 2005 Jun;90(6):3304-11. doi: 10.1210/jc.2005-0130. Epub 2005 Mar 8. PMID: 15755847.
  • van Trotsenburg AS, Vulsma T, van Santen HM, Cheung W, de Vijlder JJ. Lower neonatal screening thyroxine concentrations in down syndrome newborns. J Clin Endocrinol Metab. 2003 Apr;88(4):1512-5. doi: 10.1210/jc.2002-021303. PMID: 12679431.
  • Wasniewska M, Aversa T, Salerno M, Corrias A, Messina MF, Mussa A, Capalbo D, De Luca F, Valenzise M. Five-year prospective evaluation of thyroid function in girls with subclinical mild hypothyroidism of different etiology. Eur J Endocrinol. 2015 Dec;173(6):801-8. doi: 10.1530/EJE-15-0484. Epub 2015 Sep 15. PMID: 26374873.
  • Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, Khanal S, Butcher ET, Estrada BE, Rachubinski AL, McWilliams JA, Minter R, Dimasi T, Colvin KL, Baturin D, Pham AT, Galbraith MD, Bartsch KW, Yeager ME, Porter CC, Sullivan KD, Hsieh EW, Espinosa JM. Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome. Cell Rep. 2019 Nov 12;29(7):1893-1908.e4. doi: 10.1016/j.celrep.2019.10.038. PMID: 31722205; PMCID: PMC6871766.
  • Zwaveling-Soonawala N, Witteveen ME, Marchal JP, Klouwer FCC, Ikelaar NA, Smets AMJB, van Rijn RR, Endert E, Fliers E, van Trotsenburg ASP. Early thyroxine treatment in Down syndrome and thyroid function later in life. Eur J Endocrinol. 2017 May;176(5):505-513. doi: 10.1530/EJE-16-0858. Epub 2017 Jan 30. PMID: 28137734.

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