Question

What are the physiologic implications of the congenital adrenal hyperplasia? (what is abnormal about the physiology of people with this disease?)

Answer 1

Congenital adrenal hyperplasia refers to a group of genetic disorders that affect the adrenal glands, this disease is charecterized by deficiency of one of the enzymes needed to make specific hormones. Normaly adrenal gland is responsible for producing hormones like, cortisol, mineralcorticoids and androgens, but in this condition there is deficiency in one of the enzymes (21 hydroxylase) because of which the body unable to produce one or more of these hormones, which in turn will result in the overproduction of another type of hormone precursor in order to compensate for the loss..

In some cases in the absence of enzyme 21-hydroxylase, these individuals are not able to make a hormone known as Cortisol,  the body produces more androgens which cause a variety of symptoms such as abnormal genital development in infant girls. In majority of people with this condition they also have also deficiency of the hormone aldosterone, leading to the inability to retain salt and water this results in excessive loss of water resulting in dehydration low circulating blood volume (hypovolemia), and abnormally low blood pressure.