Congenital Adrenal Hyperplasia

What is congenital adrenal hyperplasia?

Congenital Adrenal Hyperplasia (CAH) is a rare genetic condition where a baby's adrenal glands - tiny "hormone factories" sitting on top of the kidneys - don't work correctly. These glands are supposed to make important hormones like cortisol (which helps the body handle stress) and aldosterone (which keeps the right amount of salt in the blood). In babies with CAH, the glands can't make enough of these essential hormones and instead produce too much of others, like testosterone. This condition is checked as part of the routine newborn blood spot (heel prick) test just a few days after birth.

Why do we need screening for congenital adrenal hyperplasia?

We need this screening because CAH can lead to what doctors call a "salt-wasting crisis," which is a life-threatening emergency. Without enough of the hormones that hold onto salt, a baby can become dangerously dehydrated and go into shock very quickly, often within the first two weeks of life. Because a baby with CAH may look perfectly healthy at birth, screening is the only way to find the problem before they get sick. When caught early, babies can start hormone replacement medicine right away, which prevents these crises and allows them to live a healthy, normal life.