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Thyroid dysfunction in children with Down syndrome: a literature review

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Abstract

Introduction

This article is an evidence-based review of thyroid disease in children with Down syndrome, including a comparison between various professional guidelines for the management of thyroid disease in children with Down syndrome. Aspects of thyroid disease which are discussed include: congenital hypothyroidism; autoimmune thyroid disease; subclinical hypothyroidism; and hyperthyroidism. The national professional guidelines of Ireland, the United Kingdom, the United States of America, Australia and Canada are reviewed and compared.

Materials and methods

A literature search was conducted using Medline and PubMed. Search terms included ‘Down syndrome’ and ‘thyroid disease’, ‘hypothyroidism’, ‘hyperthyroidism’, ‘subclinical hypothyroidism’.

Results

Eighty-nine articles were retrieved and reviewed for inclusion. The guidelines on the medical management of children with Down syndrome of five expert groups have also been retrieved and reviewed for this discussion. These various guidelines offer largely similar advice regarding frequency of thyroid function tests, with only Ireland and the UK testing less frequently than annually. Only the United Kingdom and Irish Down Syndrome Medical Interest Group guidelines suggest testing for thyroid antibodies at every thyroid screen. None of the guidelines offer suggestions on the optimal course of action to pursue after the discovery of subclinical hypothyroidism.

Conclusion

In conclusion, more evidence is required regarding the optimal course of treatment for subclinical hypothyroidism. Such evidence may be best obtained by conducting a prospective randomized control trial.

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References

  1. Prasher VP (1999) Down syndrome and thyroid disorders—a review. Downs Syndr Res Pract 6(1):25–42

    Article  CAS  PubMed  Google Scholar 

  2. Tuysuz B, Beker DB (2001) Thyroid dysfunction in children with Down’s syndrome. Acta Paediatr 90(12):1389–1393

    Article  CAS  PubMed  Google Scholar 

  3. Sharav T, Collins RM, Baab PJ (1988) Growth studies in infants and children with Down’s syndrome and elevated levels of thyrotropin. Am J Dis Child 142:1302–1306

    CAS  PubMed  Google Scholar 

  4. Fort P, Lifshitz F, Bellisario R et al (1984) Abnormalities of thyroid function in infants with Down syndrome. J Pediatr 104:545–549

    Article  CAS  PubMed  Google Scholar 

  5. Pascanu I, Banescu C, Benedek T et al (2009) Thyroid dysfunction in children with Down’s Syndrome. Acta Endocrinol (Bucharest, Rom.) 5(1):85–92

    Article  CAS  Google Scholar 

  6. Cutler AT, Benezra-Obeiter R, Brink SJ (1986) Thyroid function in young children with Down syndrome. Am J Dis Child 140:479–483

    CAS  PubMed  Google Scholar 

  7. Unachak K, Tanpaiboon P, Pongprot Y et al (2008) Thyroid functions in children with Down’s syndrome. J Med Assoc Thailand 91(1):56–61

    Google Scholar 

  8. Van Trotsenburg ASP, Vulsma T, van Santen HM et al (2003) Lower neonatal screening thyroxine concentrations in Down syndrome newborns. J Clin Endocrinol Metab 88(4):1512–1515

    Article  PubMed  Google Scholar 

  9. Van Trotsenburg AS, Vulsma T, Rozenburg-Marres SL (2005) 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 90(6):3304–3311

    Article  PubMed  Google Scholar 

  10. Karlsson B, Gustafsson J, Hedov G et al (1998) Thyroid dysfunction in Down’s syndrome: relation to age and thyroid autoimmunity. Arch Dis Child 79(3):242–245

    Article  CAS  PubMed  Google Scholar 

  11. Loudon MM, Day RE, Duke EMC (1985) Thyroid dysfunction in Down’s syndrome. Arch Dis Child 60:1149–1151

    Article  CAS  PubMed  Google Scholar 

  12. Ivarsson SA, Ericsson UB, Gustafsson J et al (1997) The impact of thyroid autoimmunity in children and adolescents with Down syndrome. Acta Paediatr 86(10):1065–1067

    Article  CAS  PubMed  Google Scholar 

  13. Rashid N, Mumtaz A, Mehmood S et al (2009) Assessment of thyroid dysfunction in Down syndrome patients. Pak Paediatr J 33(4):211–217

    Google Scholar 

  14. Noble SE, Leyland K, Findlay CA et al (2000) School based screening for hypothyroidism in Down’s syndrome by dried blood spot TSH measurement. Arch Dis Child 82:27–31

    Article  CAS  PubMed  Google Scholar 

  15. Friedman D, Kastner T, Pond W et al (1989) Thyroid dysfunction in individuals with Down syndrome. Arch Intern Med 149:1990–1993

    Article  CAS  PubMed  Google Scholar 

  16. Tomer Y, Blackard JT, Akeno N (2007) Interferon alpha treatment and thyroid dysfunction. Endocrinol Metab Clin North Am 36(4):1051–1066

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  17. Caraccio N, Dardano A, Manfredonia F (2005) Longterm follow-up of 106 multiple sclerosis patients undergoing interferon-{beta} 1a or 1b therapy: predictive factors of thyroid disease development and duration. J Clin Endocrinol Metab 90(7):4133–4137

    Article  CAS  PubMed  Google Scholar 

  18. Gibson PA, Newton RW, Selby K et al (2005) Longitudinal study of thyroid function in Down’s syndrome in the first two decades. Arch Dis Child 90:574–578

    Article  CAS  PubMed  Google Scholar 

  19. Rubello D, Pozzan GB, Casara D et al (1995) Natural Course of subclinical hypothyroidism in Down’s syndrome: prospective study results and therapeutic considerations. J Endocrinol Invest 18:35–40

    CAS  PubMed  Google Scholar 

  20. Faria C, Ribeiro S, Kochi C et al (2011) TSH neurosecretory dysfunction (TSH-nd) in Down syndrome: low risk of progression to Hashimoto’s thyroiditis. Arq Bras Endocrinol Metabol. 55(8):628–631

    Article  PubMed  Google Scholar 

  21. Prasher V, Ninan S, Haque S (2011) Fifteen-year follow-up of thyroid status in adults with Down syndrome. J Intellect Disabil Res 55(4):392–396

    Article  CAS  PubMed  Google Scholar 

  22. Pueschel SM, Pezzullo JC (1985) Thyroid dysfunction in Down syndrome. Am J Dis Child 139:636–639

    CAS  PubMed  Google Scholar 

  23. Goday-Arno A, Cerda-Esteva M, Flores-Le-Roux J et al (2009) Hyperthyroidism in a population with Down syndrome. Clin Endocrinol 71:110–114

    Article  CAS  Google Scholar 

  24. Londhey VA, Rajadhyaksha GC, Barhate KS et al (2010) Hyperthyroidism in a case of Down Syndrome. J Assoc Physicians India 58:568–569

    CAS  PubMed  Google Scholar 

  25. Medical management of children and adolescents with Down syndrome in Ireland. (2001)Down’s Syndrome Medical Interest Group (DSMIG) UK § Ireland

  26. Basic medical surveillance essentials for people with Down’s Syndrome-Thyroid Disorder. Down’s Syndrome Medical Interest Group (DSMIG) UK, 2001

  27. American Academy of Pediatrics (2011) Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 128:393–406

    Article  Google Scholar 

  28. Tracy J (2011) Australians with Down syndrome-—Health matters. Aust Fam Physician 40(4):202–208

    PubMed  Google Scholar 

  29. Van Cleve S, Cohen W (2006) Part I: Clinical practice guidelines with Down Syndrome from birth to 12 years. J Pediatr Health Care 20(1):47–54

    Article  PubMed  Google Scholar 

  30. Van Cleve S, Cohen W (2006) Part II: Clinical practice guidelines for adolescents and young adults with Down syndrome: 12–21 years. J Pediatr Health Care 20(3):198–205

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Graduate Entry Medical School, Clinical Academic Liaison Building, University of Limerick, University Hospital, Dooradoyle Campus, Limerick, Ireland

    K. King, C. O’Gorman & S. Gallagher

  2. University Hospital, Limerick, Dooradoyle, Limerick, Ireland

    C. O’Gorman & S. Gallagher

Authors
  1. K. King
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  2. C. O’Gorman
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  3. S. Gallagher
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Correspondence to K. King.

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King, K., O’Gorman, C. & Gallagher, S. Thyroid dysfunction in children with Down syndrome: a literature review. Ir J Med Sci 183, 1–6 (2014). https://doi.org/10.1007/s11845-013-0994-y

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  • DOI: https://doi.org/10.1007/s11845-013-0994-y

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