ECE2013 Poster Presentations Endocrine tumours and neoplasia (66 abstracts)
Introduction: MEN1 is inherited as an autosomal dominant trait, with a prevalence of 220/100 000 in the general population. It is characterized by tumors envolving the parathyroid glands, the endocrine pancreas and the pituitary. Other tumors are more rarely associated: adrenal adenomas, carcinoid tumors, pheocromocytomas, angiofibromas, lipomas, collagenomas and meningiomas. The presence of two or more of MEN1 associated tumors is diagnostic of the syndrome.
Case report: A 56-year-old man presented to the Endocrine consultation for investigation of asymptomatic multinodular goiter, with benign features in the neck sonogram. At physical examination the physician detected mildly enlarged hands and coarse facial features. The patient had been diagnosed with primary hypertension and kidney stones 2 years before. His medical history was otherwise irrelevant. Family history was negative for endocrine disease. The endocrine evaluation revealed mildly increased GH (3.3 ng/ml) and IGF-1 (704 ng/ml). The remaining anterior pituitary hormones and prolactin were normal. Throughout the oral glucose tolerance test, GH levels were equal or above 3.0 ng/ml, confirming the diagnosis of acromegaly. The cranial and sellar MRI revealed a left sellar mass 15×7 mm in diameter, inducing slight deviation of the pituitary stalk, indicating the presence of a pituitary adenoma. There was also a voluminous extra-axial left frontal tumor (43×37 mm) suggestive of a meningioma. Serum levels of calcium (11.3 mg/dl) and PTH (116.3 pg/ml) were increased, with normal renal function and 25OH vitamin D levels. Primary hyperparathyroidism (PHPT) was diagnosed. Insulinemia, gastrinemia and abdominal CT were normal. The results of the genetic test of the MEN1 gene are not yet available.
Conclusions: The phenotypic manifestations of acromegaly were the first clues to the diagnosis of MEN1 in this asymptomatic patient. The unsual association of acromegaly, PHPT and meningioma raised suspicion of a causative common genetic mutation and is diagnostic of MEN-1 syndrome.