11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency - CISMeF
11 Beta-Hydroxysteroid Dehydrogenase Type 2 DeficiencyNCIt concept
Preferred Label : 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency;
NCIt related terms : Apparent Mineralocorticoid Excess;
Alternative definition : NICHD: Decreased activity of 11-beta-hydroxysteroid dehydrogenase type 2, which catalyzes
the conversion of cortisol to cortisone due to autosomal recessive deactivating mutation(s)
in the HSD11B2 gene. Resultant elevated cortisol concentrations in the kidney activate
the mineralocorticoid receptor, resulting in hypertension, hypokalemia, and hypernatremia.;