Neurofibromatosis type 1 from an endocrinologist’s perspective: a disease requiring coordinated care

Introduction
Neurofibromatosis type 1 (NF1) is a multisystem genetic disease resulting from an inactivating mutation in the gene encoding neurofibromin. Manifestations of NF1 can affect multiple systems, including the endocrine system.

Aim of the study
The aim of this study was to analyze the frequency and nature of endocrine disorders in children with NF1 treated at the University Hospital, with particular emphasis on the need for early diagnosis and treatment.

Material and methods
We analyzed retrospective data from 66 pediatric patients hospitalized between 2018 and 2024, who met the diagnostic criteria for NF1 according to the National Institutes of Health (NIH) guidelines. Although a comprehensive analysis of this group was conducted, particular attention was given to two cases of children with gonadotropin-releasing hormone (GnRH)-dependent precocious puberty – the most common endocrine disorder in the studied population – which required treatment and formed the basis for drawing conclusions.

Results
A total of 33.3% of NF1 patients in the cohort were hospitalized in the Endocrinology Clinic, and 27.27% were diagnosed with endocrine disorders requiring therapeutic intervention. Among the patients requiring treatment, the most common diagnosis was the GnRH-dependent form of precocious puberty, based on typical NF1-related changes in the central nervous system: hypothalamic and/or optic pathway gliomas. Delayed diagnosis and treatment in two patients adversely affected the growth prognosis.

Conclusions
The obtained results underscore the importance of regular assessment of anthropometric parameters (height and weight) and pubertal development in children with NF1, enabling early detection and treatment of endocrine disorders.