congenital adrenal hyperplasia congenital adrenal hyperplasia congenital adrenal hyperplasia (cah) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. it results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. most of these disorders involve excessive or deficient production of hormones such as glucocorticoids, mineralocorticoids, or sex steroids, and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. it is one of the most common autosomal recessive disorders in humans. "adrenal hyperplasia" redirects here.