Article
Apparent mineralocorticoid excess (AME) syndrome.
Indian pediatrics - 1 Apr 2013
Parvez Yusuf, Sayed Ola El
Abstract excerpt
Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder due to the deficiency of 11b hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). Mutations in this gene affect the enzymatic activity resulting to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor leading to inherited hypertension.This is a potentially fatal but treatable...
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