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Multiple endocrine neoplasia type 1 — SCE Endocrinology MCQ

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HardMEN/NET/MiscellaneousMultiple endocrine neoplasia type 1SCE Endocrinology

A 39-year-old man has recurrent peptic ulceration, nephrolithiasis and headaches. Calcium is 2.88 mmol/L, PTH is raised, fasting gastrin is markedly elevated and prolactin is 3200 mU/L. His sister had parathyroid surgery at 30. What is the underlying pathophysiology?

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Correct answer: A — Germline MEN1 tumour suppressor gene inactivation

Parathyroid disease, pancreatic/duodenal neuroendocrine tumour features and pituitary prolactinoma suggest MEN1. MEN2 is RET-driven and classically involves medullary thyroid cancer and phaeochromocytoma. The pearl is that MEN1 hyperparathyroidism is often multiglandular and occurs young.

Reference: Endocrine Society MEN1 guideline