Congenital Adrenal Hyperplasia

What is Congenital Adrenal Hyperplasia?

Congenital adrenal hyperplasia is a group of inherited conditions that affect the adrenal glands. These small glands sit on top of your kidneys and produce important hormones. When you have this condition, your adrenal glands cannot make enough cortisol, a hormone that helps your body respond to stress and maintain blood pressure.

Your body tries to fix this problem by making more ACTH, a signal hormone from your brain. ACTH tells your adrenal glands to work harder. This causes the glands to grow larger and produce too much of other hormones like testosterone and DHEA. The hormone imbalance can affect growth, development, and how your body handles stress.

Most people are born with this condition and it ranges from mild to severe. Some forms are discovered at birth through newborn screening. Other milder forms may not show up until childhood or even adulthood. Early detection through blood testing helps people manage the condition and prevent serious health problems.

Progesterone

Reveal hormone imbalances affecting your mood
Clarify the cause of irregular periods
Confirm your fertility status with certainty

^$53

Testosterone Total LC/MS/MS

Pinpoint the cause of low energy
Reveal hidden factors affecting muscle growth
Confirm your hormone levels with certainty

^$59

Estriol, LC/MS/MS, Serum

Reveal hormone imbalances affecting your mood
Clarify fertility issues with precise insights
Pinpoint causes of unexplained weight changes

^$65

Symptoms

Ambiguous genitalia in newborn girls or enlarged genitals in newborn boys
Early puberty or rapid growth in childhood
Excessive body hair growth or facial hair in women
Irregular or absent menstrual periods
Acne or oily skin
Low blood pressure or dizziness when standing
Salt cravings or dehydration
Fatigue or weakness
Darkening of the skin
Difficulty gaining weight in infants

Some people with milder forms have few or no symptoms early on. They may only discover the condition when investigating fertility issues or irregular periods. Severe forms usually cause noticeable symptoms in infancy.

Causes and risk factors

Congenital adrenal hyperplasia is caused by genetic mutations that are passed down from parents to children. The most common form involves a deficiency of an enzyme called 21-hydroxylase, which is needed to make cortisol and aldosterone. Without enough of this enzyme, your body cannot produce these hormones properly. The buildup of hormone precursors gets converted into excess androgens like testosterone instead.

Both parents must carry the gene mutation for a child to develop the condition. If both parents are carriers, each child has a 25% chance of having the condition. Risk factors include having a family history of the disorder or belonging to certain ethnic groups where the gene is more common. Ashkenazi Jewish, Hispanic, Mediterranean, and Slavic populations have higher rates. No lifestyle factors cause this condition because it is determined at conception.

How it's diagnosed

Congenital adrenal hyperplasia is diagnosed through blood tests that measure hormone levels. Doctors look for high levels of ACTH, which signals that your adrenal glands are not responding properly. Tests also check levels of androgens like testosterone, DHEA, and progesterone. High androgen levels combined with low cortisol suggest this condition. Electrolyte tests for potassium and sodium help identify the salt-wasting form of the disease.

Rite Aid offers testing for the key biomarkers associated with congenital adrenal hyperplasia, including ACTH, DHEA, testosterone, progesterone, and potassium. Our flagship panel includes over 200 biomarkers to help you monitor hormone balance. Genetic testing can confirm the specific mutation causing the condition. Regular blood testing helps track how well treatment is working and adjust medication doses.

Treatment options

Daily hormone replacement medication with hydrocortisone or prednisone to replace missing cortisol
Fludrocortisone medication to replace aldosterone in salt-wasting forms
Increased salt intake or salt tablets for people with salt-wasting forms
Stress dosing with extra medication during illness, injury, or surgery
Anti-androgen medications to manage excess male hormones in women
Regular blood tests to monitor hormone levels and adjust medication
Medical alert bracelet to inform emergency responders about the condition
Fertility treatments or surgical options for some individuals
Working with an endocrinologist for specialized hormone management
Psychological support for body image or identity concerns

Frequently asked questions

The most common type is 21-hydroxylase deficiency, which accounts for about 95% of all cases. This enzyme deficiency prevents your body from making cortisol and sometimes aldosterone. The remaining 5% of cases involve deficiencies in other enzymes needed for hormone production. Each type has slightly different symptoms and treatment needs.

Yes, prenatal testing can detect congenital adrenal hyperplasia during pregnancy. Genetic testing through amniocentesis or chorionic villus sampling can identify the condition. Many states also include CAH screening in routine newborn blood tests taken within the first few days of life. Early detection allows treatment to start immediately and prevent serious complications.

Most people with congenital adrenal hyperplasia need blood tests every 3 to 6 months. Testing frequency depends on your age, how severe your condition is, and how stable your hormone levels are. Children may need more frequent testing during growth spurts. Your doctor will use test results to adjust medication doses and ensure hormones stay in the healthy range.

Yes, congenital adrenal hyperplasia is a lifelong condition that requires daily medication. Your body cannot make enough cortisol on its own, so you must take hormone replacement medication every day. Missing doses can lead to serious health problems including adrenal crisis. With proper treatment, most people with CAH live normal, healthy lives.

An adrenal crisis happens when cortisol levels drop dangerously low, causing severe weakness, confusion, low blood pressure, and shock. This medical emergency can occur during illness, injury, or stress if you do not increase your medication dose. Prevent it by taking medication as prescribed, increasing doses during stress, and wearing a medical alert bracelet. Seek emergency care immediately if you have severe symptoms.

Yes, many women with congenital adrenal hyperplasia can get pregnant with proper treatment. Keeping hormone levels balanced improves fertility and helps regulate menstrual cycles. Some women may need fertility treatments or medication adjustments. Working closely with an endocrinologist and obstetrician helps ensure a healthy pregnancy and safe delivery.

Salt cravings happen in the salt-wasting form of congenital adrenal hyperplasia. Your body cannot make enough aldosterone, a hormone that helps your kidneys hold onto sodium. Low sodium levels make you crave salty foods. Your doctor may prescribe fludrocortisone medication and recommend extra salt in your diet to replace what your body loses.

Babies with ambiguous genitalia need immediate hormone testing and evaluation by specialists. Doctors will check hormone levels and may do genetic testing to determine biological sex. Families work with endocrinologists, surgeons, and psychologists to make informed decisions about care. Treatment focuses on health first, with decisions about surgery made carefully over time.

Yes, physical and emotional stress increases your body's need for cortisol. Since you cannot make enough cortisol naturally, stress can worsen symptoms or trigger an adrenal crisis. You may need to temporarily increase your medication dose during illness, injury, or surgery. Always carry emergency hydrocortisone and discuss a sick day plan with your doctor.

Yes, there are classic and non-classic forms of congenital adrenal hyperplasia. Classic CAH is more severe and usually diagnosed at birth or in early infancy. Non-classic CAH is milder and may not appear until later childhood or adulthood. Both forms involve the same enzyme deficiencies but differ in severity and how much hormone production is affected.