Congenital Adrenal Hyperplasia (CAH)

After looking in to a few enzyme related human diseases. I selected "Congenital Adrenal Hyperplasia", (CAH). Congenital Adrenal Hyperplasia is said to be the most common inherited adrenal disorder in infants and children. This is caused by the lack of the enzyme that promotes the adrenal glands, a pair of walnut-sized organs above your kidneys, to produce adequate quantities of cortisol. Adrenal glands enlarge and produce more cortisol and hormones cause the body to reabsorb water and sodium, along with hormones that influence male sexual characteristics. Someone with this lacks the ability produce hormones that help regulate metabolism, the immune system, blood pressure and other basic functions of the body..

Enzyme lacking in congenital adrenal hyperplasia is 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency. There are other much rarer enzyme deficiencies that also cause CAH. CAH is passed along in an inheritance pattern called autosomal recessive. Children who have the condition have two parents who either have CAH themselves or who are both carriers of the genetic mutation that causes the condition.

The classic form, more severe, can be detected at birth with proper screenings.. Some forms of this disorder cause problems with growth and development in childrenm can also be be life-threatening.

There are two major types of congenital adrenal hyperplasia disorder. Classic CAH, this severe form of the disorder is usually detected in infancy. Nonclassic CAH, this milder and more common form becomes evident until childhood or early