ESPE Abstracts

Background: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disease, presenting with salt wasting and failure to thrive in early infancy. It is caused by inactivating mutations of the CYP11B2 gene.Objective and hypotheses: Our objective was to describe a Japanese patient with ASD, who presented with failure to thrive and salt wasting.Method: We present a case report and investigate molecular analysis of CYP11B2 ...