What does CAH mean?

Jun 06, 2024 Source: Cainiu Health
Disease description:

What does CAH mean?

Doctor's answer (1)
Dr. Yang Ziqi
CAH is the English abbreviation for congenital adrenal hyperplasia. It is a genetic disorder caused by congenital deficiencies in the activity of adrenal cortical hormone synthesis enzymes due to gene defects, which disrupts the process of corticosteroid production. Common enzyme deficiencies include 21-hydroxylase, 17α-hydroxylase, and 11β-hydroxylase. Patients with CAH may exhibit virilization due to excess androgens, along with symptoms such as abnormal drowsiness, poor appetite, weight gain, and vomiting. The incidence of CAH varies among different ethnic groups; for example, it is approximately 1 in 16,000 in European and American populations. Early diagnosis and treatment are particularly important for CAH patients, especially those with 21-hydroxylase or 11β-hydroxylase deficiencies, as early intervention can prevent the development of virilization.