11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Apparent Mineralocorticoid Excess