Endocrine Abstracts

Pheochromocytoma is a rare tumor made up of chromaffin cells from the adrenal medulla that secrete catecholamines. It can occur at any age, with a peak incidence between the fourth and fifth decade of life, and only 10% of cases occur in children. The majority of cases are sporadic and approximately 10% are malignant. The existence of familial syndrome, multiple or extra adrenal tumors is more common at younger ages. The clinic is very variable, and hypertension (HTA) is the most frequent manifestation (90% of cases). We present a case report of a 15-year-old girl with no relevant personal history taken to the Emergency Department with complaints of intense headaches with progressive aggravation accompanied by visual disturbances. At physical evaluation, she was hypertensive and the ophthalmologic observation revealed severe hypertensive retinopathy. There was no family history of hypertension, or use of oral contraception. Laboratory tests showed elevation of urinary metanephrines (1302.2 ug/24h N: 64–302), urinary normetanephrines (4178.1 ug /24 h, N: 162–527), serum cromogranin A (47.7 mmol/l N <3) and parathyroid hormone (PTH) (111.5 pg/ml, N: 15–65); normal calcium and calcitonin; and vitamin D deficiency. Abdominal CT revealed a 6.5×5.3×6 cm mass in the left adrenal gland, with nodular morphology and regular contours. MIBG scintigraphy was compatible with a tumor of cells derived from the neural crest at the left adrenal gland without other images of uptake. The patient underwent a left laparoscopic supradrenalectomy, and the histology confirmed the diagnosis of pheochromocytoma. Genetic study was negative for mutations of the RET, SDHB, SDHD and VHL genes. In the last evaluation, the patient was asymptomatic, normotensive and without biochemical or imagiologic evidence of the disease. Although unusual, it is intended with this case to recall the importance of considering the diagnosis of pheochromocytoma in the investigation of hypertension in the child/adolescent. It is a treatable cause of hypertension and potentially lethal if not diagnosed in a timely manner. Family syndromes should always be excluded in this age group.