congenital adrenal hyperplasia

congenital adrenal hyperplasia

noun

Definition of CONGENITAL ADRENAL HYPERPLASIA

: any of several hereditary disorders that are marked by inadequate synthesis of cortisol due to an enzyme deficiency determined by a defect in an autosomal recessive gene, that are typically characterized by excessive production of androgens, virilization of female external genitalia, and hypertension, and that include a severe form in which inadequate synthesis of aldosterone results in potentially fatal hyponatremia and hyperkalemia shortly after birth—abbreviation CAH