Endocrine Abstracts

Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary autosomal dominant syndrome, caused by activating germline mutations in the RET proto-oncogene. Medullary thyroid carcinoma (MTC) remains the most common and aggressive manifestation of MEN2. The family case of MEN 2 syndrome in Belarussian population is analyzed. During the analysis of the records of clinical case of patient’s death in the reginal hospital because of thrombosis of mesenteric vessels and acute abdominal surgery of previously undiagnosed pheochromocytoma - additional anamnesis data were revealed. It appeared that in the past the women got total thyroidectomy because of MTC. According to this information the decision to do screening for MEN 2 in family members was done. Medullary carcinoma with reginal metastasis was diagnosed in her son 28 years old. Total thyroidectomy was fulfilled. Subclinical hyperparathyroidism was diagnosed in her nephews 15 and 4 years old. The family members refused from genotyping. Ultrasound investigation was done. There were no thyroid nodules and serum calcitonin levels were in normal range. Parathyroid hormone concentrations were slightly increased in both nephews, ionized calcium levels were on upper border of reference rage. The 46 years old brother of deceased women refused to have clinical examination. There were difficulties in monitoring members of this family. In 4 years regional endocrinologist succeeded to invited the family members of the deceased earlier women with MEN 2 for clinical exam. By this moment medullary carcinoma took place in both nephews, single adrenal pheochromocytoma was diagnosed in her son. Surgical treatment was done in all of them. Pheochromocytoma screening was recommended for the nephews as they were at the highest risk group. Education of members of families with the history of MEN syndromes is obligatory in clinical practice. Screening for MEN syndromes in all cases of medullary carcinoma is worth doing for the purposes of differential diagnosis, proper monitoring and treatment.