Article
Coexistence of a Calcium-Sensing Receptor Mutation and Primary Hyperparathyroidism
13 Oct 2023
Abstract excerpt
Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are the main differential diagnoses in a patient presenting with parathyroid hormone (PTH)-mediated hypercalcemia. PHPT is most often caused by a single-gland parathyroid adenoma and FHH is the result of an inactivating mutation of the calcium-sensing receptor (CaSR) gene. In this paper, we present a unique case of the co-existence...
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