Definitions for "Congenital Adrenal Hyperplasia"
condition that one is born with due to the lack of an enzyme needed by the adrenal gland. Normal products of the adrenal gland, therefore, are not produced; the body tries to stimulate the gland, and it enlarges (hyperplasia).
A genetic condition in which a female is born with genitals that look like a male's due to an abnormally functioning adrenal gland.
Newborns are screened for a defect in the enzyme – 21-hydoxylase. Early diagnosis and treatment has great benefit to the infant – Signs of the disease if not treated include hyponatremia, hypokalemia, hypoglycemia, dehydration and early death; ambiguous genitalia in females and progressive virilization in both sexes. Treatment will prevent adrenal crises, persistent virilization and adult short stature due to androgen effect of premature skeletal maturation. Plastic surgery corrects ambiguous genitalia in female. (Prevalence (1:16,000 to 1:17,000; 1:3,000 Native Eskimo)