apparent mineralocorticoid excess syndrome

A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has

A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.

Signs and symptoms

• Hypertension
• Short stature
• Failure to thrive
• Hypertensive retinopathy
• Small for gestational age
• Decreased circulating renin concentration
• Metabolic alkalosis
• Hypokalemia
• Decreased circulating aldosterone concentration
• Growth delay

Also known as: 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome; cortisol 11-beta-ketoreductase deficiency; syndrome of apparent mineralocorticoid excess