Endocrine Abstracts

Objectives: Neurofibromatosis type 1 (NF1) is an autosomal, dominant, genetic disorder. The genetic lesion in neurofibromatosis type 1 is located at locus 17q11.2 that harbors the neurofibromin gene. Patients have 3-4 times higher possibility to develop malignancies relative to the general population. The endocrine manifestations of neurofibromatosis include precocious puberty, short stature, osteoporosis and pheochromocytoma. We present a patient with neurofibromatosis type 1...