What gene causes congenital adrenal hyperplasia?

What gene causes congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change ( mutation ) in several different genes : 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene. 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene.

What happens in congenital adrenal hyperplasia?

In congenital adrenal hyperplasia (CAH), a mutation (genetic change) causes the adrenal glands to make too little cortisol. In the most common type of CAH, called 21-hydroxylase deficiency, the adrenal glands also might not make aldosterone.

Can congenital adrenal hyperplasia be prevented?

You cannot prevent CAH. It is a genetic disorder. You can get it from your parents or a random gene mutation. If you have the condition, you can pass it on to your children.

What do adrenals produce?

The adrenal glands make the hormones cortisol, aldosterone, adrenaline, and noradrenaline. They also make hormones that your body uses to make sex hormones (estrogen and testosterone). All of these hormones do many important jobs, including: Turning food into energy and managing blood sugar levels.

Does congenital adrenal hyperplasia (CAH) have a cure?

Congenital adrenal hyperplasia is not a cure but has its treatment. Its treatment starts from the fetus to the womb. Some who have mild forms of CAH need no treatment and no need to take medicines daily but only they need to have cortisol if they are sick. The most common treatment is hormone replacements.

What is the prognosis of congenital adrenal hyperplasia (CAH)?

In people who have CAH, a genetic problem results in a lack of one of the enzymes needed to make these hormones. Although there is no cure, with proper treatment, most people who have congenital adrenal hyperplasia can lead normal lives. There are two major types of congenital adrenal hyperplasia: Classic CAH.

What causes primary adrenal insufficiency?

Other causes of primary adrenal insufficiency can include: Tuberculosis Chronic infection (mainly fungal infections) Cancer cells spreading from other parts of the body to the adrenal glands (especially breast cancer) Sarcoidosis , amyloidosis , and hemochromatosis Surgical removal of the adrenal glands.