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

Authors

  • Maria Adriana Rangel Pediatric Endocrinology and Diabetology Unit, Department of Pediatrics and Neonatology, Centro Hospitalar de Vila Nova de Gaia/Espinho https://orcid.org/0000-0002-6130-2446
  • Marta Vila Real Child and Adolescent Neuroscience Unit, Department of Pediatrics and Neonatology, Centro Hospitalar de Vila Nova de Gaia/Espinho
  • Fátima Santos Child and Adolescent Neuroscience Unit, Department of Pediatrics and Neonatology, Centro Hospitalar de Vila Nova de Gaia/Espinho
  • Ana Luísa Leite Pediatric Endocrinology and Diabetology Unit, Department of Pediatrics and Neonatology, Centro Hospitalar de Vila Nova de Gaia/Espinho https://orcid.org/0000-0003-2616-5324
  • Rosa Arménia Campos Pediatric Endocrinology and Diabetology Unit, Department of Pediatrics and Neonatology, Centro Hospitalar de Vila Nova de Gaia/Espinho

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v31.i4.25986

Keywords:

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.

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Author Biography

Marta Vila Real, Child and Adolescent Neuroscience Unit, Department of Pediatrics and Neonatology, Centro Hospitalar de Vila Nova de Gaia/Espinho

 

 

 

References

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Published

2022-12-27

How to Cite

1.
Rangel MA, Vila Real M, Santos F, Leite AL, Campos RA. Endocrine disorders in children with neurofibromatosis type 1: What to look for?. REVNEC [Internet]. 2022Dec.27 [cited 2024Apr.16];31(4):354-63. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/25986

Issue

Vol. 31 No. 4 (2022)

Section

Review Articles

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Copyright (c) 2022 Maria Adriana Rangel, Marta Vila Real, Fátima Santos, Ana Luísa Leite, Rosa Arménia Campos

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