Congenital adrenal hyperplasia (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Jinhui Wu, MD

Overview

Congenital adrenal hyperplasia refers to genetic disorders of the adrenal glands. It includes a group of autosomal recessive conditions resulting from biochemical paths of the steroidogenesis of cortisol from cholesterol by the adrenal glands. These diseases are 21-hydroxylase deficiency, 17α-hydroxylase deficiency, 11β-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, etc. Among them, almost 95% of cases of congenital adrenal hyperplasia are due to 21-hydroxylase deficiency. Gene mutations are the cause of these diseases. Most of these disorders can interfere with normal growth and development in children and adults.

See also

• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (patient information)

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