Endocrine Abstracts

We present the clinical case of a family with an initial diagnosis of AIP syndrome with AIP mutation and a secondary diagnosis of MEN syndrome associated because of a large MEN-1 gen deletion. A male patient 16 years old was evaluated because of delayed growth and pubertal development. He had headaches, nausea and vomits since seven years old. MRI showed: Large pituitary mass of 47.6×22×47.2 mm that erode the floor of the sella, extending into the left prepontine cistern and surrounding the carotid. After some months with high dosis of cabergoline there were not response so surgical treatment was decided. Four months after surgery MRI showed again a mass of 30×20×30 mm, remained hipopituitarism and hyperprolactinemia. Family history: The mother consulted with gynecologist in 2004 because of menstrual disturbances and bilateral galactorrhea. Pituitary macroadenoma without invasion of surrounding structures was diagnosed. During the follow up the mass had the same volume and Pituitary axis were normal. Results of the Genetic study of AIP geneheterozygous mutation in exon 6: 974G > A (p.Arg325Gln.The mother and the brother, had the same mutation while the rest of the family does not carry it. An MRI and hormonal analysis were performed in the brother and initially were normal, but last MRI showed a pituitary microadenoma. Two years ago hypercalcemia appeared in a routine analysis of the mother. We confirmed hyperparathyroidism and an image suggestive of adenoma was confirmed in the imaging tests. A parathyroidectomy was performed. In both sons calcium and iPTH are rising slightly in progressive analytics. After this, we requested abdominal CT and gastrointestinal and pancreatic hormones to rule out a possible association of neuroendocrine tumor. The results were normal in the two children, but in the mother we discovered a pancreatic polypeptide elevation and a 8 cm mass in pancreatic body and tail. The genetic study of MEN gen with MLPA (multiplex ligation dependent probe amplification) revealed the following result: heterozygous deletion corresponding to exon 1- 11(chr11 positions:64571868-64578482).To our knowledge, this is the first case of a family with the two genetics disorders (AIP and MEN-1) matching and resulting in MEN-1 syndrome.