Sipple Syndrome: From Diagnosis to Management - A Case Report

Multiple endocrine neoplasia (MEN) is a rare inherited disease caused by multiple complex mutations in the RET gene. It is characterized by the occurrence of tumors involving more than two endocrine glands in the same patient. MEN is classified into two types: MEN type ۱ (Wermer syndrome) and MEN type ۲, which is further subclassified into two phenotypes: MEN ۲A (Sipple syndrome) and MEN ۲B (Shimcke syndrome). Sipple syndrome is the most common type of MEN type ۲. It is characterized by the presence of medullary thyroid carcinoma (MTC), unilateral or bilateral pheochromocytoma, and primary hyperparathyroidism due to parathyroid cell hyperplasia or adenoma. In this article, the authors report a case of a ۳۴-year-old Libyan woman with Rh positive B blood group who presented with an enlarged neck mass. Based on clinical, radiological, biochemical, and cytological assessments, the mass was diagnosed as MTC. Two weeks apart, the patient underwent right adrenalectomy and total thyroidectomy, while the parathyroid glands were found to be normal and preserved. In cases where a neck mass is the only symptom manifestation, it is crucial to carefully investigate for other MEN ۲A findings, especially if there is a family history of MTC, to ensure a good prognosis. Patients with MEN ۲A should undergo regular screening and be managed by a multidisciplinary team.

کلیدواژه ها:

Multiple endocrine neoplasia type ۲a ، Pheochromocytoma ، Fluorodeoxyglucose ، Calcitonin ، Carcinoembryonic Antigen