Endocrine Abstracts

A 51-year-old gentleman who has been diagnosed with bilateral pheochromocytoma at the age of 11 after developing classical symptoms of catecholamine excess and had bilateral adrenalectomy. At the age of 37, he underwent total thyroidectomy with preservation of the parathyroid glands for C-cell hyperplasia. Over the course of the years, it was presumed he had MEN2A syndrome, although no formal genetic testing was done. He does not have a family history of MEN syndrome and does not have children. Annual investigations have reported normal calcium and PTH, normal urine and catecholamines, and unrecordable calcitonin and CEA. He is taking medication hydrocortisone, fludrocortisone, and thyroxine replacement regularly Upon reviewing him in Endocrine clinic in 2021, the other diagnosis apart from MEN2A was re-investigated based on the absence of hyperparathyroidism and absence of medullary thyroid cancer in previous thyroid histology and noradrenalin producing bilateral pheochromocytoma. The Exeter Genomic Laboratory reported a genetic diagnosis of Von Hippel-Lindau syndrome subsequently. A series of screening for VHL including MRI head and MRI abdomen which reports no brain pathology, however, there is 4.2 x 2.8x 1.4 cm right adrenal solid mass which represents a right pheochromocytoma relapse and 4.2 x 3.6 x 3.9 cm solid pancreas mass consistent with NET tumour. Fasting gut hormone profiles, including chromogranin A and B and plasma seated metanephrines are normal. Ophthalmology screening shows Bilateral retina angioma He underwent Whipple’s procedure in October 2021 and it is proved to be a well-differentiated grade 3 neuroendocrine tumour with Ki-67 proliferation index is 40.5% in hotspots with mitotic activity. Currently, he is ongoing adjuvant chemotherapy and clinically well. This case highlights the importance of genetic testing in endocrine syndromes which will establish an overlooked diagnosis. Moreover, it will enable surveillance for their manifestations that may not apparent clinically and initiation of early treatment.