Endocrine Abstracts

Introduction: Neurofibromatosis type 1 (NF1) is the most common autosomal dominant disease. The endocrine manifestations of NF1 are represented by pubertal abnormalities and pheochromocytoma. We report a case.

Observation: Mr. G.A, age 28, consulling for a grade 2 HTA evolving for 3 years. The anamnesis notes paroxysmal crises made of Ménard triad. The exam notes a correct blood pressure, 18 coffee latte tasks, lentiginous tasks. Two neurofibromas of 1.5 cm on the dorsal side of the neck. A bottom of the eye realized returned without particularity. The phosphocalcic balance is normal, normetanephrine 9 times normal and metanephrines 2 times normal. The dosage of calcitonin is normal. The imaging shows: At the CT scan: a right adrenal mass of 8 * 7 cm, heterogeneous, taking the contrast of intense way, without ADP satellites. At the MIBG scintigraphy showed a fixation of the mass without further fixation at a distance. Currently the patient is scheduled for right adrenalectomy after medical preparation.

Discussion: The manifestations of NF1 can be particularly serious because of different etiologies, including tumors that can be life-threatening and functional.