Mineralocorticoid Excess Syndrome, Apparent

**Definition:** A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.

**Tree numbers:** - C16.320.565.925.500 - C18.452.648.925.500

**Synonyms:** - Cortisol 11-beta-Ketoreductase Deficiency - Apparent Mineralocorticoid Excess Syndrome