Understanding Congenital Adrenal Hyperplasia: What You Need to Know

Congenital Adrenal Hyperplasia (CAH) might sound like a complicated medical term—and to be fair, it is. But for the families and individuals living with it, CAH is a very real, daily challenge that starts at birth. The good news? With early diagnosis and the right treatment, people with CAH can live full, healthy lives.

Let’s break it down simply.

What Is Congenital Adrenal Hyperplasia?

CAH is a group of genetic disorders that affect the adrenal glands—those small but mighty organs sitting on top of your kidneys. In people with CAH, the adrenal glands don’t make enough of certain hormones, like cortisol, and often produce too much of others, like androgens (male sex hormones).

The most common form is called 21-hydroxylase deficiency, which accounts for over 90% of CAH cases. It’s usually inherited and shows up at birth or in early childhood.

Signs and Symptoms to Watch For

Symptoms can vary depending on how severe the hormone imbalance is. In more serious cases (called “classic CAH”), signs may include:

Dehydration and vomiting in newborns

Poor weight gain

Ambiguous genitalia in girls

Early signs of puberty in both boys and girls

Rapid growth in childhood but shorter height in adulthood

Milder forms, known as “non-classic CAH,” may not appear until later in life and are sometimes mistaken for conditions like PCOS (polycystic ovary syndrome).

How Is CAH Diagnosed?

Thanks to newborn screening programs in many countries, CAH can often be caught within days of birth. Blood tests can confirm hormone levels, and genetic testing may help determine the exact mutation.

For families with a known history of CAH, prenatal testing and treatment are sometimes options.

Treatment and Management

There’s no “cure” for CAH, but it’s very treatable. Most people with CAH take daily medications to replace missing hormones—typically corticosteroids like hydrocortisone or prednisone. Some may also need salt supplements or additional hormone therapy during stress or illness.

With consistent care and regular check-ups, people with CAH can lead completely normal lives.

Final Thoughts

CAH might sound overwhelming, especially for new parents facing the diagnosis for the first time. But knowledge is power. With early detection, proper hormone management, and support from endocrinology specialists, this rare condition becomes a manageable part of life—not the center of it.

If you or someone you love has been diagnosed with CAH, reach out to a healthcare provider and look into support organizations like the CAH Support Group for education and community.