Introduction: Surgery is definitive treatment for primary hyperparathyroidism (PHPT). However it is vital to exclude familial hypocalciuric hypercalcaemia (FHH) in hypercalcaemic patients as a differential prior to surgery. FHH is rare and follows a benign course; surgery is unnecessary and often fails to correct hypercalcaemia. This study presents a series of patients with suspected FHH who had gene testing in a single tertiary centre.
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