ObjectiveTo evaluate the impact of genetic testing in the management of familial multiple endocrine neoplasia 2A patients.

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant disorder associated with the occurrence of medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid hyperplasia. The penetrance is almost 100% for MTC while approximately 50% and 30% of patients will develop subsequent phaeochromocytomas and hyperparathyroidism, respectively.