MEN 2A syndrome - Multiple endocrine neoplasia with autosomal dominant transmission

Multiple endocrine neoplasias (MEN) are rare inherited syndromes. MEN type 2 syndromes occur in 1:30000 individuals, and are reported in approximately 500-1000 families worldwide, the most frequent being MEN 2A (80%), followed by familial medullary thyroid carcinoma (15%) and MEN 2B (5%) (Marx and Wells, 2011; Dumitrache, 2012).

The patient, a 20-years old with MEN 2A syndrome, which has been manifested by bilateral pheochromocytoma and medullary thyroid carcinoma. It was a familial form, having first degree relatives (mother) with pheochromocytoma. The patient underwent laparoscopic adrenalectomy on her left in 2015, laparoscopic adrenalectomy on the right in 2019 and total thyroidectomy in 2020 year. The postoperative evolution of this patient is favorable. She is satisfied with the received treatment and is being supervised by an endocrinologist, undergoing hormone replacement therapy.

The case demonstrates the importance of the radical approach to MEN 2A syndrome from both a therapeutic and surgical point of view. If a pheochromocytoma is detected, adrenalectomy should be performed before thyroidectomy or other surgery to avoid intraoperative catecholamine release. Laparoscopy is the choice of approach in surgical treatment. Limitations only arise because of technical difficulties or tumor size.