Endocrine Abstracts

We present the case of a 24-year-old melanodermic male patient from Angola referred to the Endocrinology department of a central hospital, in Lisbon, Portugal. He presented skeletal deformities and joint laxity, and numerous mucosal neuromas of the oral cavity since early childhood. Recurrent diarrhea was also reported but elevated blood pressure was not observed at that time. Multinodular goiter (nodules>40 mm) was identified in physical examination and microcalcifications were evident in thyroid ultrasound. Calcitonin and Carcinogenic embryonic antigen levels were 9891 pg/ml and 471 ng/ml, respectively, at the time. Histologic diagnosis of medullary thyroid carcinoma was established after total thyroidectomy, and cervical lymph node resection ensued. Solid adrenal nodules were identified bilaterally in a CT scan, but washout above 60% suggested benignity. Serum methanephrines were three times higher than reference value but MIBG scan and Octreoscan were both not suggestive of pheocromocytoma. The patient remained normotensive until the age of 29. Only then, after repeated MIBG, laparoscopic bilateral adrenalectomy was performed and two solid heterogeneous lesions measuring 16 and 30 mm, on the right and left adrenal glands, respectively, were removed. Histological analysis confirmed 4 benign pheocromocytoma. DNA analysis of the RET gene identified a heterozygous germline mutation: c. 2753T>C (p. Met918Thr). Follow-up CT scan identified de novo multiple secondary liver lesions. Current calcitonin and CEA levels are 11217 pg/ml and 179 ng/ml, respectively, and diarrhea is still the main complaint, requiring symptomatic therapy. Herein, we present a case of late MEN 2B diagnosis in order to reinforce the need for a higher awareness of the specific phenotype in order to accomplish the goal of a timely and adequate treatment.