MEN1-associated hyperparathyroidism — SCE Endocrinology MCQ

Correct answer: A — MEN1 caused by a germline MEN1 pathogenic variant

The best answer is “MEN1 caused by a germline MEN1 pathogenic variant”. Primary hyperparathyroidism is often the earliest MEN1 manifestation, while pancreatic neuroendocrine and pituitary tumours complete the characteristic familial spectrum. “MEN2A due to a pathogenic germline RET variant” is less appropriate because MEN2A instead centres on medullary thyroid carcinoma and phaeochromocytoma with possible parathyroid disease “McCune–Albright syndrome due to mosaic GNAS activation” is less appropriate because McCune–Albright is mosaic and combines fibrous dysplasia, café-au-lait skin change and autonomous endocrine activity “Autoimmune polyglandular syndrome type 1 due to AIRE variants” is less appropriate because autoimmune polyglandular syndrome produces gland failure and candidiasis rather than familial endocrine tumours “Klinefelter syndrome due to an additional X chromosome” is less appropriate because Klinefelter syndrome causes primary testicular failure and is unrelated to this tumour pedigree

Reference: GeneReviews: Multiple Endocrine Neoplasia Type 1. https://www.ncbi.nlm.nih.gov/books/NBK1538/