Endocrine Abstracts

Introduction: Several familial disorders could be associated with adrenal pheochromocytoma such as Von Hippel–Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN2) and, less commonly, neurofibromatosis type 1 (NF1). Herein, we report three cases of pheochromocytoma as a part of genetic syndromes.

Observations

Patient 1

A 34-year-old women with no familial history, was diagnosed with severe hypertension at 36 weeks of pregnancy. After delivery she was admitted for further exploration of an uncontrolled hypertension and palpitations. The physical examination showed café au lait spots (>6), two neurofibromas and clusters of freckles in the armpits and under the breast. Eye exam detected lisch nodules. The diagnosis of NF1 was made. A 24 h urinary test founded a metanephrine level of 17 572 nmol/Cr (normal range 15–120 nmol/Cr) and a normetanephrine level of 6250 nmol/Cr (normal range 40–280 nmol/Cr). Adrenal-CT reveled a right heterogeneous adrenal mass (70×73 mm) with areas of necrosis. MIBG scintigraphy showed a right adrenal mass with a strong supporting evidence for a pheochromocytoma.

Patient 2

A 25-year-old woman with no familial history, had a surgical resection of a cerebellum hemangioblastoma. Genetic analysis identified a heterozygous germline mutation in the VHL gene consistent with VHL syndrome. Further multiple tumor screening showed bilateral adrenal masses on the CT scans and the functional nature of the adrenal masses was confirmed by a MIBG scintigraphy. Elevated urinary metanephrine level of 1200 nmol/Cr (normal range 15–120 nmol/Cr) and a normetanephrine level of 1484 nmol/Cr (normal range 40–280 nmol/Cr) confirmed the diagnosis of bilateral pheochromocytoma.

Patient 3

A 32-year-old woman with no familial history, was diagnosed with medullary thyroid carcinoma and was treated by a total thyroidectomy. Screening for further tumors revealed bilateral adrenal masses on the CT scans and the Octreoscan detected bilateral adrenal uptake suggesting bilateral pheochromocytoma. Herein, she was admitted to our department for further explorations. The patient was asymptomatic with a normal blood pressure and heart pulse. Biological finding showed an elevated concentrations of plasma chromogranin A of 100 ng/ml and elevated 24 h urinary metanephrine level of 618 nmol/Cr (normal range 15–120 nmol/Cr) and normetanephrine level of 436 nmol/Cr (normal range 40–280 nmol/Cr). We concluded to a diagnosis of MEN2. The serum calcium level, phosphate level and parathormone level was normal.

Conclusion: More than 35% of pheochromocytoma are hereditary. Early diagnosis and regular follow-up are the only means for a better outcome.