hrp0098fc10.3 | Multisystem Endocrine Disorders | ESPE2024

Endocrine disorders in a wide cohort of children and adolescents affected by Neurofibromatosis type 1

Collini Valentina , Risio Alessandro , Grilli Federico , Rodari Giulia , Citterio Valeria , Giacchetti Federico , Profka Eriselda , Mantovani Giovanna , Giavoli Claudia

Background: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder affecting 1:3000 individuals. Endocrine comorbidities have been reported in 1%-3% of all NF1 patients. In children, central precocious puberty (CPP) is the most frequent endocrinopathy (3%). Other endocrinological problems associated with this condition are short stature, growth hormone (GH) deficiency/excess, calcium-phosphate metabolism derangement and decreased bone mineral density...