Apparent mineralocorticoid excess - Update

Abstract

Apparent mineralocorticoid excess (AME) is a rare inherited form of hypertension caused by 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD) deficiency. The disorder was first described biochemically and hormonally in 1977 by New et al. in a Native American girl with severe hypertension [1]. The syndrome is caused by non-functional mutations in HSD11B2 on chromosome16q22. More than 40 causative mutations have been described. AME defined an important "pre-receptor" pathway in steroid hormone action and their specificities to the receptor. © 2011 Springer Science+Business Media, LLC.