congenital adrenal insufficiency

An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylas

An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.

Signs and symptoms

• Sex reversal
• Increased circulating aldosterone concentration
• Adrenocorticotropic hormone excess
• Hyperpigmentation of the skin
• Adrenal insufficiency
• Renal salt wasting

Also known as: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE; Adrenal insufficiency, congenital, with 46,XY sex reversal; P450scc DEFICIENCY