Endocrine Abstracts

Introduction: Multiple Endocrine Neoplasia type 1 is an underdiagnosed autosomal dominant disorder, with inter and intrafamilial variability without a genotype-phenotype correlation.

Case report: A young female (born in 1986) presented with galactorrhea and secondary amenorrhea in 2002, and investigation revealed a prolactinoma. Her brother (born in 1982) presenting gynecomastia and erectile dysfunction at age 21, was also diagnosed with prolactinoma. The female was referred to our appointment in 2013 due to pancreatic tumors, treated with cabergoline. Laboratory: prolactin 44 ng/ml [1.9–25], GH 25.8 ng/ml [0.06–5], IGF1 1.208 ng/ml [117–329], OGTT: GH basal/nadir 18.5/12.1 ng/ml; calcium 11.3 mg/dl [8.4–10.2], PTH 95 pg/ml [10–70]. VIP, gastrin, glucagon, insulin, chromogranin-A: normal. Thoraco-abdominopelvic-CT: lesions on pancreatic tail with 40×27×36 mm and 7 mm; heterogeneous liver mass 48×49×51 mm. Octreoscan: two focus of hyperfixation in pancreas. Biopsy: pancreatic neuroendocrine tumor with liver infiltration. MRI revealed diffuse pituitary hyperplasia. Subtotal parathyroidectomy, distal pancreatectomy and liver metastasectomy were performed. Histopathologic examination: pancreatic neuroendocrine tumors, Ki-67<2%; secondary infiltration of liver. After surgery: IGF1 424 ng/ml, OGTT basal/nadir 0.6/0.25 ng/ml, calcium 10.3 mg/dl. Octreoscan and abdominal-CT were negative 4 months later. MRI revealed regression of pituitary hyperplasia. GHRH immunohistochemical study on pancreatic tumors was negative. Family study was performed: brother underwent total pancreatectomy due to non-functioning pancreatic tumors; 60-year-old father: evidence of bronchopulmonary carcinoid tumor, non-functioning pancreatic tumors, primary hyperparathyroidism. Family DNA sequence analysis of the MEN1 gene identified a germinal mutation on exon 2: deletion of 4bp involving codon 88, not yet described.

Conclusions: The occurrence of prolactinoma at a young age in two siblings should have prompted a genetic basis investigation, possibly implying a different prognosis in this family. The diagnosis of acromegaly in the female patient, its etiology and pituitary imaging need to be further elucidated.