Congenital Adrenal Hyperplasia
Normal by definition means, "Conforming, adhering to, or constituting a usual or typical standard, pattern, level, or type;" but what does it really mean (Morris 848)? For me and others throughout the world "Normal" means growing up and maturing with a rare congenital disease that requires daily medication for life. Although normal for those people living with this affliction, this paper will describe the nature, rarity, history, seriousness, treatment, and future of Congenital Adrenal Hyperplasia.
Congenital Adrenal Hyperplasia or CAH is a rare but dangerous birth defect. It is generally defined as the absence of the cortex (or middle), of the adrenal gland, or the inability of the cortex to perform normally (Morris 327). The diagnosis of CAH is sometimes difficult because CAH unfortunately, has similar external symptoms to both Spinal Meningitis and Staph - Infection of the Brain, and can only be found through blood and urine tests making it necessary to catch and treat it without delay.
On the other hand the internal symptoms of CAH are in no way similar to either Spinal Meningitis or Staph - Infection of the brain. Although there are four various forms of CAH they all have a common etiology, a deficiency of one of the enzymes necessary for the cortex's production of cortisol (Donohoue P.A., Jospe' N, Migeon C.J. 277)
Enzymes are the chemical precursors that allow certain reactions to take place. The most common type of enzyme related to CAH is 21-hydroxylase. The deficiency of 21-hydroxylase is represented in more than ninety percent of all cases of Congenital Adrenal Hyperplasia and its deficiency is referred to as an enzymatic block. Cholesterol is a precursor of all steroid hormones, one of them being the previously mentioned cortisol. In the absence of, or with an insufficient quantity of...