hrp0094p2-345 | Multisystem endocrine disorders | ESPE2021

Endocrine manifestations in familial neurofibromatosis type 1: a case report

Ayadi Younes , Lassoued Najoua , Arfa Sondos , Kooli Mariem , Alaya Wafa , Sfar Mohamed Habib ,

Introduction: Type 1 neurofibromatosis (NF1), also called Recklinghausen’s disease, is one of the most common genetic diseases. It is autosomal dominant inherited. Its diagnosis is based on the presence of a familial history of NF1 in a first-degree relative and on the presence of a set of clinical arguments. Endocrine manifestations may exist. The most common are pheochromocytoma and precocious puberty, but other endocrine disorders can be observed more ...