Pheochromocytoma and medullary thyroid carcinoma in a pregnant multiple endocrine neoplasia-2A patient

We describe a rare combination of pheochromocytoma and medullary thyroid carcinoma (MTC) during pregnancy.

Twenty-three-years old lady, primigravida, was detected to be hypertensive at 12 weeks of gestation and was found to have left adrenal mass on routine obstetric scan. She had a goitre on examination which was proven to be MTC on fine needle aspiration cytology. Twenty-four hours urinary vanillyl mandelic acid and serum calcitonin levels were elevated. After adequate α and β blockade she underwent left adrenalectomy during second trimester of gestation with no significant perioperative complications. Twelve days later she underwent total thyroidectomy.

Adrenal mass was confirmed to be pheochromocytoma while MTC was confirmed in the thyroidectomy specimen. Post-operatively, she was normotensive and delivered a healthy female baby at term. Both mother and the baby tested positive for germline RET mutation (C634W) in exon 11.

We describe a rare case of pregnant multiple endocrine neoplasia-2A patient with pheochromocytoma and MTC.