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Endocrine Abstracts (2020) 70 EP270 | DOI: 10.1530/endoabs.70.EP270

1’C.I. Parhon’ National Institute of Endocrinology, Bucharest, Romania; 2’Carol Davila’ University of Medicine and Pharmacy, Bucharest, Romania


Multiple endocrine neoplasya type 2 (MEN-2) is a rare hereditary complex disorder caused by a germline activating mutation of the RET proto-oncogene. The estimated prevalence is approximately 1:30.000. Three clinical forms have been described depending on the phenotype: MEN2A (80%), MEN2B and familial medullary thyroid carcinoma (MTC).

Clinically, MEN2A present with MTC (80–100%), unilateral or bilateral pheocromocytoma (40%) and primary hyperparathyroidism (25%) and ocasionally with cutaneous lichen amyloidosis/Hirschprung disease, within a single patient.

Case report: A 50-year-old male patient, hypertensive and diabetic, was reffered to us with MEN 2 suspicion. He presented in a general hospital with nonspecific symptoms: abdominal and low back pain, loss of appetite, vomitting and weight loss; while his 23-year-old daughter has already been diagnosed in our hospital with MEN2A syndrome with a rare high risk RET mutation (Cys634Tyr).

Anterior abdominal CT scans revealed bilateral adrenal masses. Hormonal tests suggested high plasma and urinary metanephrines (MN-1.015 pg/ml, 5.806 mg/24 h) and normetanephrines (NMN-2.545 pg/ml, 7.696 mg/24 h), high cromogranin A(538 pg/ml) confirming pheocromocytoma. Thyroid ultrasound described a non-homogeneous, vascularized right lobe macronodule with calcifications. High levels of calcitonin(1858 pg/ml) and CEA (75.27 ng/ml) with bilateral pheocromocytoma confirmed MEN2A. The patient underwent bilateral adrenalectomy performed by the team of doctors Paun and Beuran and total thyroidectomy this january. Histopathological exam confirmed bilateral multifocal medullary carcinoma – T2 mNxMo. His family was invited for MEN screening, but his son is refusing and his brother is postponing the investigations. His 27-year-old nephew, with no clinical features, came for investigations. Hormonal test highlighted high plasma and urinary MN(448 pg/ml, 956 mg/24 h) and NMN(504 pg/ml, 760 mg/24 h), high calcitonin (1244 pg/ml) and CEA (42.02 ng/ml) and thyroid ultrasound that showed a left lobe nodule with calcifications. An abdominal CT scan was performed and revelead a right adrenal nodule and left adrenal hyperplasia. Both men’s genetic testing highlighted the same high risk RET mutation (Cys634Tyr).

Particularities: An early onset of the syndrome and the presence of an high risk mutation in his family suggest for an highly aggressive phenotype of the syndrome. A notable intra-familial variability in disease aggressiveness was observed because her father presented with late onset of the MEN2A and developed complications.

Conclusions: Simultaneous apparition of bilateral pheocromocytoma and MTC in a patient are mandatory for further investigations and detailed genetic screening to all members of the family. Thus, early diagnosis and regular follow-up can provide a better outcome, but the prognosis in variable.

Volume 70

22nd European Congress of Endocrinology

Online
05 Sep 2020 - 09 Sep 2020

European Society of Endocrinology 

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