Genetic or familiar forms of primary hyperparathyroidism: description of a case series with familial isolated hyperparathyroidism and review of the literature.

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 hyperplasia and parathyroid carcinoma). Six family members presented with a heterozygous mutation in the CDC73 gene, and one patient had a copy number variation of undetermined clinical significance in the same gene. In addition, we review the particularities of each condition associated with PHPT, indications for genetic evaluation, and recommendations for follow-up and treatment.