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Hyperparathyroidism-jaw tumour syndrome — SCE Endocrinology MCQ

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HardMEN/NET/MiscellaneousHyperparathyroidism-jaw tumour syndromeSCE Endocrinology

A 31-year-old woman has recurrent renal stones and a family history of jaw tumours. Calcium is 2.98 mmol/L and PTH is 24 pmol/L. Ultrasound suggests a single parathyroid lesion, but there is also a mixed cystic-solid mandibular lesion. What is the most appropriate next investigation?

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Correct answer: B — Genetic testing for CDC73-related hyperparathyroidism-jaw tumour syndrome

Hyperparathyroidism with jaw tumours suggests CDC73-related hyperparathyroidism-jaw tumour syndrome, which carries parathyroid carcinoma risk. RET testing is appropriate for MEN2 patterns, not this phenotype. The pearl is that unusual parathyroid presentations should trigger genetic thinking.

Reference: Endocrine Society hereditary hyperparathyroidism guidance