Genotype-First Characterization of Familial Hypocalciuric Hypercalcemia Type 1: Prevalence, Serum Calcium and Clinical Associations.
Familial hypocalciuric hypercalcemia type 1 (FHH1), caused by inactivating CASR variants, is characterized by lifelong hypercalcemia and hypocalciuria and should be distinguished from primary hyperparathyroidism as their management differs substantially. Prior reports suggest additional clinical associations (e.g., pan...