Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is a group of inherited conditions that affect your adrenal glands, which are small glands located on top of your kidneys. These glands are responsible for producing several important hormones, including cortisol (which helps your body respond to stress and illness), aldosterone (which helps regulate salt and water balance), and androgens (sex hormones). In CAH, a genetic error means your adrenal glands don't have enough of a specific enzyme needed to make these hormones properly. This often leads to a shortage of cortisol and aldosterone, while other hormones like androgens can be produced in excess. CAH is a genetic condition, meaning it's passed down through families. It occurs when a child inherits a faulty gene from both parents. This genetic defect prevents the adrenal glands from functioning correctly from birth. The specific type of CAH depends on which enzyme is deficient, with 21-hydroxylase deficiency being the most common form. Lab tests are essential for diagnosing CAH, often through newborn screening programs. These tests measure the levels of certain hormones and their precursors (like 17-hydroxyprogesterone) in your blood. Identifying CAH early is extremely important because timely diagnosis and treatment can prevent life-threatening salt-wasting crises in infants, manage hormone imbalances, address physical symptoms, and guide long-term care to help individuals lead healthy lives.