Endocrine Abstracts

Introduction: Parathyroid tumors are the most common (90%) and usually the first manifestation feature of MEN1 syndrome. The occurrence of anterior pituitary tumors in MEN1 syndrome may range between 10% and 60%. Pituitary involvement includes the initial manifestation of MEN1 syndrome in 10% to 25% of individuals and usually show more aggressive behavior; 20% secrete prolactin, fewer than 10% secrete GH, 5% secrete ACTH, and the remainder appear to be nonfunctioning.

Objective: Description of a 29-year-old female diagnosed of aggressive acromegaly as single manifestation of MEN1 syndrome.

Case: The patient was referred to endocrinology due to oligomenorrea. Elevated prolactin 69 (3-30 ng/ml) and IGF1 854 ng/ml (117-329) were detected. GH after oral glucose tolerance test (OGTT) (12 ng/ml) confirmed the acromegaly. Magnetic resonance showed a 7.5 x 6 x 8 mm adenoma without cavernous sinus invasion. Transsphenoidal surgery was performed. Histopathological exam described an atypical adenoma with Ki 9% and GH positivity. After surgery, the patient became pregnant and the evaluation of the disease was carried out after delivery. A 3 mm tumor rest was observed. IGF 1 levels 399 ng/ml (71-234) and GH after OGTT (1.2 ng/ml) indicated persistent acromegaly. In a second intervention the rest can not be removed and Octreotide Lar (20 mg/month) was initiated. Despite the increase in medical therapy, IGF 1 remained elevated and the patient was referred to Radiation oncology. MEN 1 (c.512G >A;p.Arg171Gln) and SDHD (c149A>G; p.His50Arg) heterozygous mutations were detected. Calcium metabolism exam and radiological screening were normal. Fathers patient carried the same mutation in both genes (MEN 1 and SDHD). He referred a single episode of nephritic colic and myocardial infarction at the age of 38. Calcio and PTH were normal. Radiological image showed a 1 cm nonfunctioning pancreatic mass. No other first-degree relatives showed mutations.

Conclusions: An aggressive acromegaly could be the first manifestation of a MEN1 syndrome.