Endocrine implications of neurofibromatosis 1 in childhood

Carla Bizzarri, Giorgia Bottaro

Research output: Contribution to journalArticlepeer-review


In 1882, von Recklinghausen described a group of patients with multiple tumors arising from the 'endoneurium' of peripheral nerves, and called them 'neurofibromas'. The term von Recklinghausen disease was used up to the end of the 20th century, when the gene of neurofibromatosis (NF1) was cloned on chromosome 17q11.2. The gene product is a cytoplasmic protein termed neurofibromin, regulating proliferation and maturation of both glial and neuronal progenitors during embryogenesis. Loss of neurofibromin function determines the hyperactivation of the proto-oncogene RAS, leading to an increased risk of tumor formation, predominantly affecting the skin, bone and the nervous system. NF1 is clinically and genetically distinct from neurofibromatosis type 2, characterized by bilateral vestibular schwannomas and other nervous system tumors. An increased incidence of central precocious puberty, diencephalic syndrome, GH deficiency and GH hypersecretion has been described in NF1 children. These conditions are commonly complications of optic pathway gliomas (OPG) involving the hypothalamic and sellar region. Nevertheless, these endocrine disorders have been observed also in children without evidence of OPG at magnetic resonance imaging. Clinical and laboratory follow-up is crucial in all children with NF1, particularly in those with an OPG, aiming at the early identification of signs suggestive of secondary endocrine alterations.

Original languageEnglish
Pages (from-to)232-241
Number of pages10
JournalHormone Research in Paediatrics
Issue number4
Publication statusPublished - May 28 2015


  • Gigantism
  • Glioma
  • Growth
  • Growth hormone
  • Neurofibromatosis
  • Precocious puberty

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism


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