Endocrine Abstracts

Neurofibromatosis 1 (NF1) is a rare disease determined by mutations in the RAS-MAPK pathway. It can cause precocious or delayed puberty.Case 1: A 11 years 9 months old girl known with Neurofibromatosis – Noonan Syndrome (NF-NS) was admitted for severe growth deficit (-5.14 SDS). She had over 20 café au lait spots, hypertelorism, pterigium colli, B1 P1. At 18 months she had had surgery for pulmonary stenosis and after that a left ventricular tum...