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Sindrome di Down ed endocrinopatie

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L'Endocrinologo Aims and scope

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.

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Authors and Affiliations

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

    Anastasia Ibba & Sandro Loche

Authors
  1. Anastasia Ibba
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  2. Sandro Loche
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Corresponding author

Correspondence to Sandro Loche.

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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.

Additional information

Proposto da Annamaria Colao, Andrea Lenzi e Francesco Trimarchi.

Materiale elettronico supplementare

I link al materiale elettronico supplementare sono elencati qui sotto.

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Ibba, A., Loche, S. Sindrome di Down ed endocrinopatie. L'Endocrinologo 19, 26–30 (2018). https://doi.org/10.1007/s40619-018-0385-8

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  • DOI: https://doi.org/10.1007/s40619-018-0385-8

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