Endocrine Abstracts

78-year old previously healthy man was reffered to Outpatient endocrinology clinic due to painful spine and shoulders. His lumbar and thoracic X-ray showed decreased lumbar and thoracic vertebrae (L1, L2 and Th 5) and densitometry indicated slightly decreased bone density with T score -1,0 in left femoral neck and L1 vertebra. Since patient mentioned recent unintentionally 10 kg weight loss he was processed to further work-up and additional blood tests were done. Secondary osteoporosis was ruled out. Levels of testosterone and cortisol as well as PTH, calcium and phosphate were normal. Slightly elevated PSA (6 μg/l) and significantly eleveted CEA 75.2 μg/l (n.v.< 5) were noticed, and TSH was 8 mIU/l. Patient had no history of thyroid disease earlier. Thyroid ultrasound showed hypoechoic nodule with smooth irregular capsule size 2.3×2.4×1.7 cm in right lobe and FNA was done. Cytological finding indicated medullary thyroid carcinoma. Neck ultrasound was repeated to evaluate lymph nodes and FNA of largest ipsilateral lymph node size 8×5 mm with visible hilus and reactive aspect was done preoperatively – no tumor cells were found. Additonal measurement of serum calcitonin and urinary fractionated metanephrines was done. Calcitonin was extremely high, 1998 ng/l (n.v. 8,31–14,3) and pheochromocytoma was ruled out. Since very high levels of serum calcitonin and CEA were found, CT of thorax and abdomen was done and no metastasis were found. Patient underwent total thyroidectomy with cervical lymph node dissection. Patohistology confirmed medullary thyroid carcinoma with 4/16 positive lymph node on ipsilateral site, contralateral lymph nodes were not positive for tumor. Postoperatively values of calcitonin was 10×05 ng/l (n.v. 8,31–14,3) and CEA was 31.8 ng/ml, but since postive lymph nodes patient was reffered to oncologist. According to current NCCN guidelines, after diagnosis of MTC was confirmed, screen for germline RET proto-oncogene mutations was done. It showed that patient had mutation c. 790 in 13. exsone of RET gene which is related with MEN2 syndrome. In conclusion, paraneoplastic syndrome is not so rare with MTC – literature refers flushing and diarrhea as most, and ectopic secretion of ACTH as less common. I wanted to show patient with systemic manifestation not commonly described with MTC as were weight loss and bone pain in patient whose age would not indicate thyroid tumor to be cause of these symptoms.