ESPE Abstracts

Background: Autosomal-dominant hypocalcemia hypercalciuria (ADHH) is rare a genetic disorder characterized by hypocalcemia, hypercalciuria, low or inappropriately normal levels of parathyroid hormone caused by heterozygous activating mutation of calcium sensing receptor. It may be familial or sporadic with variable genotype and phenotype correlation.Objective: We are reporting a de-novo heterozygous variant of the Ca...