A Case Report of Calcium- Sensing Receptor Gene Variant CASR (c.659G>A; p.R220Q) and Primary Hyperparathyroidism

Abstract

Background: Primary hyperparathyroidism (PHPT) results from excessive parathyroid hormone from one or more overactive parathyroid gland(s). An estimated 90% of PHPT cases are sporadic, and up to 10% are inherited, comprising hereditary hyperparathyroidism (HHPT). Genetic testing can aid in diagnosis and management and influence testing of other family members.