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Endocrine Abstracts (2017) 49 EP158 | DOI: 10.1530/endoabs.49.EP158

ECE2017 Eposter Presentations: Adrenal and Neuroendocrine Tumours Endocrine tumours and neoplasia (50 abstracts)

Bilateral pheochromocytomas, asyptomatic medullary thyroid carcinoma associated with left side thyroid hemiagenesis in a patient with MEN2A: diagnostic correlations

Ionela Lungu 1 , Carmen Emanuela Georgescu 1, , Anca Ciurea 3 , Carmen Georgiu 4 , Denisa Petrescu 1 , Daniel Tudor Cosma 5 , Horatiu Silaghi 6 & Cristina Alina Silaghi 1,


1Endocrinology Clinic, County Emergency Hospital, Cluj-Napoca, Romania; 2Department of Endocrinology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania; 3Department of Radiology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania; 4Department of Pathology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania; 5Diabet, Nutrition and Metabolic Diseases Clinical Center, Cluj-Napoca, Romania; 65th Department of Surgery, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.


Multiple endocrine neoplasia 2A (MEN2A), an autosomal dominant genetic syndrome caused by germline mutation in RET proto-oncogene, associates medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO) and primary hyperparathyroidism (HPT). Thyroid hemiagenesis (TH), the absence of one lobe, is a rare congenital abnormality (300 cases are reported in literature). Most cases of TH are diagnosed when patients present a lesion in the functioning lobe. TH was observed among members of the same family and genetic causes have been evoked. The present case is a 35 year-old-female patient with family history of MEN2A (the pedigree was studied). Genetic testing of the patient’s cousin and nephew indicated heterozygosity for the same mutation at codon 634. Plasma metanephrines, normethanephrines, parathormone (PTH) and calcitonin (CT) levels were increased. Serum ionized calcium was normal. Abdominal computed tomography provided the bilateral heterogeneous adrenal masses measuring 30×21 mm on the right and 20×16 mm on the left with an intense enhancement after contrast infusion. Neck ultrasound examination described 2 hypo-echoic, heterogeneous thyroid micro-nodules in the right thyroid lobe, with micro-calcifications inside, which measure 78×58, respectively 45×47 mm. In the left side, hemiagenesis of the thyroid lobe was observed. No parathyroid adenoma or lymphadenopathy were found. The patient had underwent a bilateral laparoscopic adrenalectomy for PHEO followed by total right thyroidectomy. Microscopic examinations established the diagnosis of multicentric PHEO and synchronicity of C-cell hyperplasia with medullary thyroid microcarcinoma. Although the identified RET mutation has hight risk, suggesting a possible aggressive evolution, in this case the CMT development was gentle, with a good prognosis (lesion < 1 cm diameter, without distant metastases, preoperative basal calcitonin < 150 pg/ml). In conclusion our patient is a rare case of association of an anatomic thyroid abnormality and MTC in the context of a complex genetic disease.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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