Article
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.
The Journal of clinical endocrinology and metabolism - 1 Jul 1998
Dave-Sharma S, Wilson R C, Harbison M D, Newfield R, Azar M R, Krozowski Z S, Funder J W, Shackleton C H, Bradlow H L, Wei J Q, Hertecant J, Moran A, Neiberger R E, Balfe J W, Fattah A, Daneman D, Akkurt H I, De Santis C, New M I
Abstract excerpt
Apparent mineralocorticoid excess (AME) is a genetic disorder causing pre- and postnatal growth failure, juvenile hypertension, hypokalemic metabolic alkalosis, and hyporeninemic hypoaldosteronism due to a deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme activity (11 beta HSD2). The 11 beta HSD2 enzyme is responsible for the conversion of cortisol to the inactive metabolite cortisone and therefore...
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