Endocrine Abstracts

We present a 24 year old gentleman with Multiple endocrine neoplasia type 1 with a truncating mutation in the Menin gene arising denovo. He has a past medical history of optic atrophy, pituitary macroprolactinoma in 2007 with ommaya reservoir in situ, hyperparathyroidism with subsequent parathyroidectomy (3 glands removal) and spinal osteoporosis. He had a laparoscopic pancreatic nodule enucleation for pancreatic tumours (×2 in tail of pancreas) in 2017 with his histology stained positive for glucagonoma with Ki67 index of 3.2% and elevated glucagon levels at 206 pmol/l (0–50) though he was asymptomatic. He is on pituitary hormone replacement – hydrocortisone, cabergoline, levothyroxine and nebido injection. He recently presented with 1–2-month history of increasing lethargy, confusion, persistent hunger, sweatiness and shakes. His libre showed persistently low blood sugars ranging between 2–3 mmols. His investigations showed – Hba1c 22 mmol/mol, C-peptide 2012 pmol/l, insulin 14.7 mu/l, glucose 1.5 mmol/l, IGF-1 10.2 nmol/l, SHBG 108 nmol/l, PTH 11.2 pmol/l, testosterone 10.3 nmol/l, corrected calcium 2.57 mmol/l, chromogranin A 43 pmol/l (0–60). His MRI of the pituitary gland showed a large cystic pituitary mass with small enhancing solid components measuring 25.4×27.7×27 mm with normal appearance of the craniocervical junction. His repeat CT chest abdomen and pelvis showed A 5 mm hypervascular nodule in the distal pancreatic body, a 2 mm hypervascular focus in the inferior pancreatic head and also enlarged node in the region of gastrocolic vessels suggestive of neuroendocrine tumours. He was commenced on diazoxide 100 mg three times a day. He was discussed in our neuroendocrine MDT meeting and subsequently undergone a distal pancreatectomy, splenectomy and cholecystectomy due to gallstones.

Conclusion: Multiple endocrine neoplasia type 1 (MEN1) is a complex inherited condition, presenting with hyperparathyroidism, pituitary tumours and pancreatic endocrine tumours. Pancreatic endocrine tumour releases excessive hormones such as gastrin, somatostatin, insulin, glucagon and vasoactive intestinal polypeptide or may be silent (Non-functioning NET). MEN-1 is known to be associated with pancreatic tumours heterogeneity in size and grade. The metachronous functional heterogeneity is less common. This case serves to further enhance awareness among endocrinologist of such possibilities and need for ongoing functional and radiological surveillance.