ESPE Abstracts

Background: Severe deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) triggers activation of mineralocorticoid receptor (MR) by cortisol and causing apparent mineralocorticoid excess (AME) syndrome characterized mostly by low-renin arterial hypertension and hypokalemia. In 2003, we studied a patient with AME (3 years-old) having two homozygous mutation, D223N (rs121917833) and a SNP C>T in intron 3 (rs376023420) (Carvajal et al. JCEM 2003).<p cla...