Endocrine Abstracts

Introduction: MEN-1 syndrome is an autosomal dominant disorder caused by mutations in tumor suppressor gene MEN1 and is characterized by the occurrence of parathyroid, pancreatic islet and pituitary tumors. Finding such patient means very pro-active approach to be followed as shows our clinical case.

Case-report: A 30-year-old male was sent for an endocrinological investigation due to an incidental finding of a pituitary lesion on a CT scan after a car accident. He had a history of renal colic 3 years before and his mother underwent a parathyroid gland surgery. During an endocrinological examination a neck ultrasound was performed revealing an enlarged parathyroid gland (8×10×13 mm) under the left thyroid lobe. The localization study was then confirmed by scintigraphy scan and primary hyperparathyroidism was biochemically confirmed: total calcium 3.17 mmol/l (2-2.75), phosphate 0.73 mmol/l (0.65-1.61), PTH 8.6 pmol/l (1.58-6.03). Regarding the brain finding the MRI scan revealed an expansion 10×9×9 mm in the infundibular part of the pituitary gland in close attachment to chiasma opticum, the eye perimeter was normal. Prolactin level was slightly elevated 55.59 µg/l (2.1-17.7), other endocrine axes were normal. Because of a strong clinical suspicion, a genetical testing was performed confirming the diagnosis of MEN1. Following current guidelines a subtotal parathyroidectomy was performed with a prophylactic thymectomy decreasing the risk of future malignant neuroendocrine tumors (NET) in this area. Further active surveillance of NET tumors was done, laboratory testing for chromogranin A and gastrin was negative, but the gadolinium PET/CT scan revealed 5 lesions with high expression of somatostatin receptors in the pancreas. According to the MRI pancreatic scan the biggest lesion in the tail had 23 mm and 13 mm the one in the head. Based on multidisciplinary decision the patient underwent surgery: resection of pancreatic tail and enucleation of the NET tumor in the pancreatic head. Lifelong active follow-up is scheduled, including the brain lesion, which was so far managed in a conservative approach.

Conclusion: Patients with MEN1 have a decreased life expectancy, their prognosis might be improved by presymptomatic tumor detection and undertaking treatment specific for MEN1 tumors. MEN1 patients and their families should be cared for by multidisciplinary teams.