MEN2A

Abstract

INTRODUCTION/BACKGROUND
Multiple endocrine neoplasia (MEN) 2A is a rare inherited syndrome with manifestations depending on the specific RET mutation. Classical MEN2A is characterised by medullary thyroid cancer (MTC), pheochromocytoma and primary parathyroid hyperplasia.

CASE
We report a case of a 43-year-old female whose initial presentation was left flank pain, with an ultrasound showing hydronephrosis. CT scan showed a bilateral adrenal mass (>4 cm) with central necrosis. Her serum CEA and 24-hour urine metanephrine were markedly elevated. She did not present with the classical triad of pheochromocytoma. She then underwent bilateral adrenalectomy with histopathologic examination confirming pheochromocytoma. Postoperatively, she was started on fludrocortisone and hydrocortisone. A neck ultrasound was done, revealing a TR5 thyroid nodule. FNAC was done, and results showed medullary thyroid carcinoma. She was scheduled for a total thyroidectomy.

CONCLUSION
Patients with MEN might present with atypical symptoms with no positive family history. The diagnosis of pheochromocytoma will lead the clinician to investigate further to rule out MEN2A. Although MTC is usually the first manifestation of MEN2A, our patient did not present with related symptoms. Definitive treatment of pheochromocytoma should be performed prior to treatment of MTC. All patients with pheochromocytoma should be adequately prepared before surgery, including blood pressure control. Patients with pheochromocytoma and MTC should be given a high index of suspicion for the diagnosis of MEN2A. Screening may include CEA, 24-hour urine metanephrine and neck ultrasound. Adrenalectomy and lifetime replacement of adrenal hormones should be given. Ideally, genetic testing for RET mutation should be done.