congenital adrenal hyperplasia

A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.

Signs and symptoms

• Elevated circulating 17-hydroxyprogesterone concentration
• Increased circulating dehydroepiandrosterone-sulfate concentration
• Ambiguous genitalia, female
• Increased serum testosterone level
• Increased circulating androstenedione concentration
• Elevated serum 11-deoxycortisol
• Decreased circulating aldosterone concentration
• Decreased circulating renin concentration
• Hyperkalemia
• Hyponatremia

Also known as: adrenal hyperplasia 1; congenital lipoid adrenal hyperplasia; lipoid CAH