Endocrine Abstracts

Introduction: Pheochromocytoma is a rare tumor, representing a cause of secondary endocrine hypertension. Traditionally, prior to the widespread availability of imaging investigations, pheochromocytoma was diagnosed based on the triad: headache, palpitations and sweating. Diagnosis is crucial, as 40-50% of pheochromocytoma patients exhibit genetic mutations associated with multiple syndromes, such as MEN2 syndrome, succinate dehydrogenase enzyme mutations, neurofibromatosis type 1 and von Hippel-Lindau syndrome. Management inevitably involves surgery, preceded by appropriate α-blockade. Lifelong monitoring is necessary due to the risk of recurrence and malignancy.

Case description: We present the case of a 50-year-old Caucasian woman, smoker of 30 pack-years, diagnosed with hypertension in 2022 for which she is currently undergoing treatment with Perindopril/Indapamide 5/1.25 mg. The patient describes three hypertensive crises associated with stressful events and hyperhidrosis for the past 3 months. In november 2023 she underwent an abdominal CT scan that revealed a nodularly transformed right adrenal gland, with dimensions of 90/66/81.2 mm, featuring an iodophilic tissue component, cystic areas and several central necrotic areas, suggestive for a giant right adrenal pheochromocytoma. Upon examination, the patient has hyperpigmentation on the anterior thorax, intermittent headache and a blood pressure of 150/98 mmHg. Calcitonin is within normal range. Plasma metanephrines and normetanephrines present values of 1770 pg/ml (>23 UNL) and 4860 pg/ml (>31 UNL), respectively. Markers specific of neuroendocrine tumors are elevated, such as chromogranin A (981 ng/ml; >9.5 UNL) and neuronal specific enolase (19.8 mg/l; >1.5 UNL). Urinary metanephrines and normetanephrines have elevated values of 2600 mg/24 h (>8.5 UNL) and 3900 mg/24 h (>7 UNL), respectively. Urinary 5-HIAA has normal values. The mean blood pressure after ambulatory blood pressure monitoring is 122/80.2 mmHg. Based on these results, the patient underwent surgery after receiving treatment with phenoxybenzamine for 3 weeks. The histopathology report is pending as well as the RET gene analysis.

Discussion: This case describes the management of a patient with giant oligosymptomatic pheochromocytoma. The particularity of the case is given by the large dimensions of the tumor (9 cm) and the unusual clinical picture of the patient.