Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcemia (FHH) has been classically characterized as an asymptomatic disease with mild hypercalcemia, hypocalciuria and inappropriately normal or high serum PTH concentration. The aim of our study is to assess the utility of genetic testing in patients with suspected FHH with atypical clinical manifestations, and the validity of classical biochemical parameters for the diagnosis.Description of methods: A retrospe...