Endocrine disorders in children with neurofibromatosis type 1: What to look for?

• Autor(a) principal: Rangel,Maria Adriana
• Data de Publicação: 2022
• Outros Autores: Real,Marta Vila, Santos,Fátima, Leite,Ana Luísa, Campos,Rosa Arménia
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542022000400354
• topic: endocrine system diseases; growth and development; neurofibromatosis 1; Pediatrics

Abstract Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders, with a reported incidence of 1:3000. The condition is multisystemic, and diagnostic criteria have been recently revised as an international consensus recommendation. The clinical features evolve slowly and progressively and may often be absent in early childhood. Disorders of growth and endocrine conditions, although described for several decades in these children, are not included in the diagnostic criteria. However, they are relatively frequent and may be the presenting feature of optic pathway glioma. Due to its wide spectrum of health implications, children with NF1 are often followed at Pediatric consultation. The aim of this article is to review the most frequent endocrine disorders in NF1 patients, what to look for, and when to refer patients to pediatric Endocrinology consultation.