Endocrine Abstracts

Background: MEN 2b is a highly penetrant disease with an autosomal dominant pattern of inheritance. It includes medullary thyroid carcinoma, pheochromocytomas, and multiple mucosal neuromata. The common feature of all of these tumors is a neuroectodermal origin. Although the clinical phenotype is present in all patients, individual manifestations have a variable presentation and are age dependent.

Aim.: We report a case of a patient with possible MEN 2b syndrome anв pregnancy.

A 30-year-old Caucasian woman was admitted to the cardiologic department of the hospital in October 2017 for resistant hypertension unresponsive to medical therapy. The patient had a history of hypertension for 5 years without any treatment or etiological diagnosis. On arrival indicated blood pressure was 240/120 mmHg. She denied family history of premature coronary artery disease and special personal history, such as smoking and drinking. But her mother died in young age (36 yers old) because of adrenal tumor.Contrast-enhanced computed tomography demonstrated an inhomogeneous left adrenal mass (5.5 × 4.1 cm HU +13-+88). Her plasma epinephrine and norepinephrine and levels were elevated (118 (0-65) pg/ml and 7069,5 (0-200) pg/mlm accordingly). Preoperative stabilization with alpha-adrenergic blocking agent (doxazosin) was started a month before surgery. The patient underwent laparoscopic left adrenalectomy after premedication. Histopathology confirmed adrenal pheochromocytoma with residual necrosis. The patient was diagnosed with pheochromocytoma. During the 2-year follow-up, the patient was asymptomatic, and her blood pressure remained normal without medication. Her plasma epinephrine and norepinephrine and levels normalized (15,3 (0-65)pg/ml and 114 (0-200)pg/ml). After the operation she become pregnant, there were no problems during pregnancy, her labour were in December 2018 without any complications.

She visited our center because of the second pregnancy. On examination she had several neurofibromas on her skin. She mentioned that her sister also has neurofibromatosis on her skin. Thyroid sonography demonstrated solide isooechogenic nodule 4,7*3.8 mm at the left thyroid lobe. Serum calcitonin as biochemical marker for the presence of medullar thyroid cancer was elevated - 20,4 (0-10) pg/ml. Her TSH, epinephrine and norepinephrine were normal. Just now her gestation period is 38 weeks and she is waiting for delivery. In the future, we plan to continue examination of the patient and her sister.

Conclusion: Women with MEN 2 should be screened for pheochromocytoma prior to a planned pregnancy. Family history is an important part of diagnostic algorithm of MEN 2b. Genetic tests could help to identify RET mutation.