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DOI: 10.20945/2359-4292-2024-0311
Abstract Primaryhyperparathyroidism (PHPT) is a disorder of mineral metabolism caused by inappropriate or excessive secretion of parathyroid hormone. It occurs sporadically in approximately 95% of cases but may also be associated with complex syndromes and/or a familial (i.e., hereditary) history. We report the clinical, laboratory, and genetic profiles of a case series with familial isolated hyperparathyroidism. Diagnosis was established in patients aged 22-41 years (median = 32), and recurrence was identified in four patients (three with adenoma and one with […]
Keywords: CDC73 protein; parathyroid cancer; Parathyroid neoplasms; Primary hyperparathyroidism