Growth hormone excess in children with neurofibromatosis type-1 and optic glioma

Paola Cambiaso, Stefania Galassi, Melania Palmiero, Angela Mastronuzzi, Francesca Del Bufalo, Rossella Capolino, Antonella Cacchione, Paola S. Buonuomo, Michaela V. Gonfiantini, Andrea Bartuli, Marco Cappa, Marina Macchiaiolo

Research output: Contribution to journalArticlepeer-review


In children with neurofibromatosis type 1 (NF1) and optic pathways glioma (OPG), growth hormone (GH) excess has been rarely reported and mainly associated to central precocious puberty. The aim of our study is to evaluate the prevalence of GH excess, the association with central precocious puberty, the relation with tumor site and the evolution over time in a large cohort of children with NF1 and OPG. Sixty-four NF1 children with OPG were evaluated. Patients with stature and/or height velocity >2 SD for age were studied for GH secretion. Seven out of 64 children (10.9%) with NF1 and optic pathways glioma showed GH excess, isolated in 5 cases and associated to central precocious puberty in 2. All the children with GH excess had a tumor involving the chiasma. Children with GH excess underwent medical treatment with lanreotide and a minimum clinical/biochemical follow up of 2 years is reported. The present study demonstrates that GH excess should be considered as a relative frequent endocrine manifestation in NF1 patients, similarly to central precocious puberty. Therefore, these patients should undergo frequent accurate auxologic evaluations. On the other hand, an increase in height velocity in children with NF1, even despite normal ophthalmological exams, can suggest the presence of OPG and therefore represents an indication to perform brain MRI.

Original languageEnglish
Pages (from-to)2353-2358
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number9
Publication statusPublished - Sep 1 2017


  • gigantism
  • neurofibromatosis 1
  • optic pathways glioma

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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