Congenital Adrenal Hyperplasia

Excerpt

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical steps of production of glucocorticoids, mineralocorticoids, or sex steroids from cholesterol by the adrenal glands. Most of these diseases involve the excessive or deficient production of sex steroids that can alter the development of primary or secondary sex characteristics in some affected infants, children, or adults. Sometimes, deficient production of mineralocorticoids can lead to severe salt-wasting, increasing neonatal morbidity, and mortality. Universal newborn screening for CAH, done in the U.S. and many developed countries, is recommended for early diagnosis and institution of therapy..