Sommario
La neurofibromatosi tipo 1 (NF1) è una malattia multisistemica, clinicamente eterogenea, che può coinvolgere anche il sistema endocrino. Il feocromocitoma/paraganglioma associato alla NF1 ha frequenza maggiore rispetto alla popolazione generale e presenta un moderato rischio di malignità. Altre manifestazioni endocrinologiche sono la bassa statura, la pubertà precoce, alterazioni del metabolismo osseo, alterazioni tiroidee e metaboliche. L’endocrinologo dovrebbe pertanto essere parte integrante del team multidisciplinare preposto alla gestione clinica di questi pazienti.
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Gli autori Barbara Altieri, Francesco D’Aniello, Annamaria Colao e Antongiulio Faggiano dichiarano di non aver conflitto di interesse.
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Altieri, B., d’Aniello, F., Colao, A. et al. Aspetti endocrini della neurofibromatosi tipo 1. L'Endocrinologo 20, 261–265 (2019). https://doi.org/10.1007/s40619-019-00616-y
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DOI: https://doi.org/10.1007/s40619-019-00616-y