Congenital adrenal hyperplasia (CAH) is a group of hereditary disorders that affect the adrenal glands. The adrenal glands produce the hormones cortisol and aldosterone. CAH is caused by genetic defects that prevent these glands from producing these two hormones either entirely or at normal rates. Everyone has two of these glands, one on top of each kidney. Cortisol is sometimes called the stress hormone because it’s released when you’re under stress. It helps control blood sugar. Aldosterone helps the kidneys function and balance electrolytes. Infant girls with classical CAH typically have a larger clitoris. Some infant boys have an enlarged penis. Other symptoms in babies include:
1. Weight loss
2. Poor weight gain
Children with classical CAH often go through puberty earlier than normal and also grow faster than other kids but end up being shorter than others in adulthood. Women with this type of CAH usually have irregular menstrual cycles. Both women and men may experience infertility.
HOW IS CONGENITAL ADRENAL HYPERPLASIA DIAGNOSED?
A specialist in endocrinology or a paediatrician can diagnose this condition by the following tests
1. Blood test
2. Urine test
HOW IS CONGENITAL ADRENAL HYPERPLASIA TREATED?
Treatment is through medications or surgery
The most common form of treatment for CAH is taking a replacement hormone medication on a daily basis. This helps bring your affected hormones back up to normal levels and lessens any symptoms.
Girls between the ages of 2 to 6 months can have a surgery called feminizing genitoplasty in order to change the look and function of their genitals. This procedure might need to be repeated when they’re older.
DID YOU KNOW?
Although Congenital Adrenal Hyperplasia can be life-threatening, most people with this disorder lead normal lives