Endocrine Abstracts

We describe a 35 year old man who was referred back to the endocrinology service with a chronically raised amylase. He had previously been seen for early onset type 2 diabetes and for primary hyperparathyroidism. He had undergone a single gland parathyroidectomy, aged 32, for primary hyperparathyroidism in 2013 after which his calcium had remained normal. In clinic he was found to be overweight but otherwise well, with normal blood pressure and an HbA1c 49 mmol/mol. The most striking clinical finding was of numerous skin lipomas, mainly confined to his trunk. His history of primary hyperparathyroidism, although histology had reported adenoma/hyperplasia, and this finding raised the possibility of MEN 1. There was no relevant family history, suggesting a possible sporadic mutation. Initial investigations included a CT Abdomen/Pelvis and MEN 1 gene testing. CT showed a cystic islet cell tumour in the tail of the pancreas and MEN 1 testing confirmed a 1579C>T mutation. A subsequent Octreotide scan showed low grade avidity within the pancreatic lesion and fasting bloods revealed a raised Glucagon. The patient is now awaiting removal of his pancreatic lesion. Current guidelines suggest screening for MEN 1 should only be performed in patients developing primary hyperparathyroidism under 30 years of age. Clearly, cases such as this suggest that some will be missed using this cut off. The case also highlights the need for careful integration of clinical and histological findings. Current guidelines would recommend MEN 1 screening in individuals with primary hyperthyroidism and either skin lipomas or hyperplasia on histology.