ABSTRACT
Syndrome of apparent mineralocorticoid excess The syndrome of apparent mineralocorticoid excess (SAME) occurs as an autosomal recessive condition and is, again, characterized by features of mineralocorticoid excess with suppression of plasma renin activity.13 The abnormal sodium retention is due to the action of cortisol binding to mineralocorticoid receptors in the distal renal tubule. Normally, cortisol access to these receptors is prevented by the action of the enzyme 11 beta-hydroxysteroid dehydrogenase which converts cortisol to cortisone, which does not bind to the receptor. Where the enzyme is defective due to major mutations in both alleles, cortisol metabolism is severely diminished and the steroid is able to access the mineralocorticoid receptors and therefore mimic the effects of aldosterone.14
