Advertisement

L'Endocrinologo

, Volume 19, Issue 1, pp 26–30 | Cite as

Sindrome di Down ed endocrinopatie

  • Anastasia Ibba
  • Sandro Loche
Rassegna
  • 60 Downloads

Sommario

La Sindrome di Down ha un’incidenza di 1/400–1500 nati vivi ed è la causa più frequente di disabilità intellettiva di origine genetica. È caratterizzata da un insieme di manifestazioni fenotipiche variabili riscontrabili sin dalla nascita, legate alla presenza, parziale o completa, di un cromosoma 21 sovrannumerario. Oltre alle caratteristiche fisiche che la contraddistinguono, la Sindrome di Down può presentare complicanze a livello sistemico. Le complicanze endocrine più frequenti della sindrome di Down sono a carico della tiroide, dell’osso, del sistema metabolico, delle gonadi e del pancreas.

Parole chiave

Sindrome di Down Ipotiroidismo Bassa statura Ipogonadismo Diabete mellito Tipo 1 Obesità 

Notes

Conflitto di interesse

Gli autori Anastasia Ibba e Sandro Loche dichiarano di non avere conflitti di interesse.

Consenso informato

Lo studio presentato in questo articolo non ha richiesto sperimentazione umana.

Studi su animali

Gli autori di questo articolo non hanno eseguito studi sugli animali.

Supplementary material

40619_2018_385_MOESM1_ESM.doc (30 kb)
(DOC 31 kB)
40619_2018_385_MOESM2_ESM.doc (30 kb)
(DOC 30 kB)

Bibliografia

  1. 1.
    Kazemi M, Salehi M, Kheirollahi M (2016) Down Syndrome: current status, challenges and future perspectives. Int J Mol Cell Med 5(3):125–133 PubMedPubMedCentralGoogle Scholar
  2. 2.
    Mundakel GT, Lal P (2017) Down Syndrome. Medscape http://emedicine.medscape.com/article/943216-overview. Accessed 24 aprile 2017
  3. 3.
    Pierce MJ, LaFranchi SH, Pinter JD (2017) Characterization of thyroid abnormalities in a large cohort of children with Down Syndrome. Horm Res Paediatr 87(3):170–178 CrossRefPubMedGoogle Scholar
  4. 4.
    Aversa T, Salerno M, Radetti G et al. (2015) Peculiarities of presentation and evolution over time of Hashimoto’s thyroiditis in children and adolescents with Down’s syndrome. Hormones 14(3):410–416 PubMedGoogle Scholar
  5. 5.
    Aversa T, Valenzise M, Salerno M et al. (2015) Metamorphic thyroid autoimmunity in Down Syndrome: from Hashimoto’s thyroiditis to Graves’ disease and beyond. Ital J Pediatr 41(1):87 CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Bull MJ (2011) Health supervision for children with Down Syndrome the Committee on Genetics. Pediatrics 128(2):393–406 CrossRefPubMedGoogle Scholar
  7. 7.
    Gibson PA (2005) Longitudinal study of thyroid function in Down’s syndrome in the first two decades. Arch Dis Child 90(6):574–578 CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Goday-Arno A, Cerda-Esteva M, Flores-Le-Roux JA et al. (2009) Hyperthyroidism in a population with Down Syndrome (DS). Clin Endocrinol (Oxf) 71(1):110–114 CrossRefGoogle Scholar
  9. 9.
    Rivkees SA (2016) Controversies in the management of Graves’ disease in children. J Endocrinol Invest 39(11):1247–1257 CrossRefPubMedGoogle Scholar
  10. 10.
    Kowalczyk K, Pukajło K, Malczewska A et al. (2013) L-thyroxine therapy and growth processes in children with Down syndrome. Adv Clin Exp Med Off Organ Wroclaw Med Univ 22(1):85–92 Google Scholar
  11. 11.
    Zemel BS, Pipan M, Stallings VA et al. (2015) Growth charts for children with Down Syndrome in the United States. Pediatrics 136(5):e1204–1211 CrossRefPubMedPubMedCentralGoogle Scholar
  12. 12.
    Myrelid Bergman S, Elfvik Strömberg M, Jonsson B et al. (2010) Late effects of early growth hormone treatment in Down Syndrome. Acta Paediatr 99(5):763–769 CrossRefPubMedGoogle Scholar
  13. 13.
    Adelekan T, Magge S, Shults J et al. (2012) Lipid profiles of children with Down Syndrome compared with their siblings. Pediatrics 129(6):e1382–1387 CrossRefPubMedPubMedCentralGoogle Scholar
  14. 14.
    Hawli Y, Nasrallah M, Fuleihan GE-H (2009) Endocrine and musculoskeletal abnormalities in patients with Down Syndrome. Nat Rev Endocrinol 5(6):327–334 CrossRefPubMedGoogle Scholar
  15. 15.
    Rohrer TR, Hennes P, Thon A et al. on behalf of the DPV Initiative (2010) Down’s Syndrome in diabetic patients aged <20 years: an analysis of metabolic status, glycaemic control and autoimmunity in comparison with type 1 diabetes. Diabetologia 53(6), 1070–1075 CrossRefPubMedGoogle Scholar
  16. 16.
    Gillespie KM, Dix RJ, Williams AJ et al. (2006) Islet autoimmunity in children with Down’s Syndrome. Diabetes 55(11):3185–3188 CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.SSD di Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico “A. Cao”AO BrotzuCagliariItalia

Personalised recommendations