Endocrine Abstracts

We presented the case of a 20-year-old woman which has presented for endocrinologic evaluation after right adrenalectomy for pheochromocytoma. From her heredocolateral antecedents, we retain her grandmother and sister of her father with sudden cardiac death at early age. At this presentation, she had normal plasma and urinary MN and NMN. Plasma Cg A and Serotonin are normal and the CT exam showed right adrenalectomy and right renal microlitiasis. Genetic analysis showed mutation of the RET gene: TgC634Tgg (Cys634Trp). Ultrasound of the thyroid showed two hypoecogen nodules: 0.52/0.62 cm and 0.53/0.44 cm with irregular borders and with central and periferic vascularization, without laterocervicale lymphadenopathy. TSH, free T4, and ATPO were normal. Serum calcitonin was rised: 21.9 pg/ml (normal: 1.0–4.8 pg/ml). PTH and serum calcium were normal. We decided total thyroidectomy with radical cervical lymphatic dissection and genetic screening for family which showed the same mutation of the gene RET to her father who at the time of diagnosis presented medular thyroid carcinoma.

In conclusion, ussualy, in MEN2A syndrome, medular thyroid carcinoma is the first diagnosed but in our patient the first diagnosed was pheocromocytoma. In this case, long-term follow-up is necessary for detection of metastases and primary hyperparatirodism. Plasma and urinary MN and NMN will be done twice a year, biochemical screening for pheocromocytoma will be done before any surgery, plasma calcitonin twice a year and if it is rised PET-CT for detection of metastasis for medular thyroid carcinoma.