Endocrine Abstracts

Background: 55 year-old male is admitted in 2019 to the hospital for relapsed MEN syndrome.

Case report: The pacient first presented to the hospital in march 2012 acusing dysphonia. He was diagnosed with vocal cord paralysis due to locoregional extension of MTC, based on the ultrasound aspect, calcitonin >2000 pg/mL, chromogranin=123 ng/mL and also with primary hyperparathyroidism due to right lower parathyroid adenoma (hypercalcemia=12.8 mg/dl, PTH=214 pg/ml) confirmed with scintigraphy, followed by genetic testing presenting a MEN 2A syndrome with RET proto-oncogene 634 mutation of exon 11. Investigations for pheochromocytoma were negative. 3 months after the pacient was submitted to surgery calcitonin was over 300 pg/mL, CEA=15.6 ng/ml (N<3,4), cervical CT revealed a nodule in the right thyroid lodge 1.2/1.2 cm and paratracheal iodophilic tissue 0.5/0.7 cm but cerebral CT, neck ultrasound, liver and adrena l MRI showed no secondary lesions. 15 months after surgery cervico-mediastinal CT revealed laterocervical and bilateral paratracheal nodules, with calcitonin levels doubled so that 26 months after the first thyroidectomy another surgical intervention was performed, with neck dissection and excision of 32 lymph nodes. In 2019 whole body CT suggests suspicious local lesions with no clear distant metastasis despite high calcitonin levels.

Conclusions: Pacient with MEN 2A who underwent two surgical procedures has some particularities: despite high residual calcitonin levels, we could not find any distant metastasis and despite genetic mutation specific for pheochromocytoma, the patient relapsed for primary hyperparathyroidism which is not specific and does not present with pheochromocytoma, a more frequent association.