Endocrine Abstracts

A 40 year old gentleman presented with dramatic weight loss and a rash in the perineal area spreading to involve his face, trunk, legs and feet. Initial investigations demonstrated a normocytic anaemia with no evidence of thyroid disease or diabetes. Occasional diarrhoea prompted subsequent investigations including upper GI endoscopy, duodenal biopsy, pancreatic exocrine testing and barium follow-through studies which were normal. His 24 hour urinary 5-hydroxyindoleacetic acid levels corrected to normal with adjustment for creatinine. Serum chromogranin A levels were 160 pmol/l (normal <60) and octreotide scintigraphy demonstrated a focal area of increased uptake in the region of the pancreas/duodeno-jejunal flexure, corresponding to a 7 cm mass in the tail of the pancreas on CT scan. Fasting gut hormone profile demonstrated a glucagon value of 375 pmol/l (normal <50) confirming glucagonoma syndrome with necrolytic migratory erythema. In keeping with this there was evidence of significant hypoaminoacidaemia. He underwent distal pancreatectomy with normalisation of glucagon and chromogranin A, and correction of the hyper-catabolic protein state. MEN1 mutational screening was negative.

A 35 year old gentleman with established MEN1 and previous parathyroidectomy/thymectomy was found to have a raised glucagon level of 52 pmol/l on annual screening. There were no clinical features of the glucagonoma syndrome but subsequent MRI showed a 2 cm tumour at the body/tail of the pancreas. He underwent distal pancreatectomy with histology showing at least 28 tumour nodules, the largest measuring 17 mm. Immunostaining of this and five others showed strong expression of chromogranin A and synaptophysin, with focal positivity for glucagon and pancreatic polypeptide. These reports illustrate the contrasting modes of presentation of glucagonomas in sporadic and MEN1-associated disease and suggest that glucagonoma syndrome is less apparent in inherited cases. This is likely to relate to earlier recognition by periodic screening in MEN1 though modification of phenotypic expression cannot be excluded.