ea0037ep97 | Steroids, development and paediatric endocrinology | ECE2015
Zavratnik Andrej
, Zavrsnik Matej
, Ksela Urska
, Homsak Evgenija
, Rajic Antonela Sabati
, Gruson Damien
, Pfeifer Marija
Introduction: The syndrome of apparent mineralocorticoid excess (AME), a genetic disorder, resembles findings similar to those in primary aldosteronism, but aldosterone levels are low. AME is due to deficiency in the 11-beta-hydroxysteroid-dehydrogenase-enzyme-type-2 isoform (11-beta-HSD2), which normally converts cortisol to cortisone to prevent its mineralocorticoid activity at the aldosterone-sensitive sites. The deficiency in 11-beta-HSD2 leads to marked elevation in net m...