ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 P58 | DOI: 10.1530/endoabs.63.P58

A case of Von Hippel-Lindau disease with bilateral pheochromocytoma and ectopic hypersecretion of intact parathyroid hormone

Marwa Bennour, Ibtissem Oueslati, Ons Rejeb, Sabrine Mekni, Meriem Yazidi, Wafa Grira, Fatma Chaker & Melika Chihaoui


Department of Endocrinology, La Rabta Hospital, Tunis, Tunisia.


Introduction: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited syndrome predisposing to a variety of highly vascularised tumors in different organs. Although bilateral pheochromocytoma was reported in patient with VHL disease, the coexistence of primary hyperparathyroidism is not a common condition. Herein we report a case of a primary hyperparathyroidism secondary to an ectopic secretion of intact parathyroid hormone (PTH) in a patient with VHL disease and bilateral pheochromocytomas.

Observation: A 17-year-old woman was referred to our department for exploration of a newly diagnosed diabetes mellitus with severe arterial hypertension. Her past medical history was unremarkable. As symptoms, she had headaches, palpitations and hot flashes. On examination, she had a body mass index of 21 kg/m2, a blood pressure of 200/100 mmHg, a regular pulse of 120 bpm and multiple café-au-lait spots. Thyroid exam was normal. Blood tests disclosed hypercalcemia (111 mg/l, normal range: 85–105) with increased intact PTH level (182 pg/ml, normal range: 10–65) consisting with the diagnosis of primary hyperparathyroidism. 24-hour urinary normetanephrine level was elevated (3150 μg/24h, normal range: 30–440) pointing to a catecholamine-secreting tumor. Thyroid functions, 25 OH vitamin D and calcitonin tests were normal. The abdominal computed tomography showed two adrenal masses; the first in the right measuring 35 * 55 * 70 mm with a spontaneous density of 130 UH enhanced in the arterial time heterogeneously showing areas of necrosis with an absolute washout of 40%, the second in the left measuring 24 * 27 mm and is well limited. MIBG scintigraphy exhibited a high accumulation of tracer in both adrenal tumors. Cervical ultrasound and (99mTc)-sestamibi scintigraphy were normal. Genetic testing revealed a mutation of the VHL gene. After medical preparation, patient underwent a bilateral adrenalectomy and the pathological examination confirmed bilateral adrenal pheochromocytoma. The postoperative evolution was marked by the spontaneous normalization of calcium and PTH levels.

Discussion and conclusion: Coexisting pheochromocytoma and primary hyperparathyroidism usually occurs as a part of multiple endocrine neoplasia and was rarely reported in VHL disease. In our case, the elevation of intact PTH and its spontaneous normalization after surgical treatment of pheochromocytoma confirm its ectopic secretion. Therefore, we consider that controlling calcium and PTH levels postoperatively remains useful if the topographic assessment of primary hyperparathyroidism associated with pheochromocytoma was negative.

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