Congenital adrenal hyperplasia

What is Congenital adrenal hyperplasia?

Congenital adrenal hyperplasia is a group of inherited disorders that affect the adrenal glands. These two small glands sit on top of your kidneys and make important hormones. In people with this condition, the adrenal glands cannot make cortisol properly due to missing or faulty enzymes.

When cortisol production is blocked, the body tries to compensate by making more of other hormones. This often leads to too much testosterone and other androgens, which are typically male hormones. The severity varies widely from person to person. Some people have a severe form that shows up at birth. Others have a milder form that might not cause symptoms until childhood or even adulthood.

The most common type is called 21-hydroxylase deficiency, which accounts for about 95% of cases. Without enough cortisol, your body struggles to respond to stress and regulate blood pressure. The excess androgens can affect growth, development, and sexual characteristics. Early detection through blood testing helps manage the condition and prevent serious complications.

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Symptoms

Symptoms depend on which form of congenital adrenal hyperplasia you have and how severe it is. Common signs include:

Early puberty or rapid growth in childhood followed by shorter than average adult height
Irregular or absent menstrual periods in women
Excess facial or body hair in women
Severe acne that does not respond to typical treatments
Deepening of the voice in women
Difficulty getting pregnant or infertility
Low blood pressure or salt cravings
Darkening of the skin in certain areas
Dehydration or poor weight gain in infants
Ambiguous genitalia in newborn girls

Some people with the milder form have no obvious symptoms for years. Others may only notice signs during times of illness or stress. Newborns with the severe form can develop a life-threatening crisis within weeks if not diagnosed and treated.

Causes and risk factors

Congenital adrenal hyperplasia is caused by genetic mutations that are passed down from parents to children. Both parents must carry the altered gene for a child to develop the condition. When both parents are carriers, each child has a 25% chance of inheriting the disorder. The mutated genes affect enzymes needed to produce cortisol and sometimes aldosterone, another important adrenal hormone.

You cannot prevent congenital adrenal hyperplasia through lifestyle choices because it is present from birth. However, certain ethnic groups have higher carrier rates. People of Ashkenazi Jewish, Hispanic, Mediterranean, or Slavic descent face increased risk. Genetic counseling can help families understand their risk if they have a family history of the condition or belong to higher-risk populations.

How it's diagnosed

Diagnosis starts with blood tests that measure hormone levels. Doctors look for high levels of androgens like testosterone and low levels of cortisol. Testing free testosterone and estrone can reveal the hormone imbalances typical of congenital adrenal hyperplasia. Rite Aid offers testing for these biomarkers as an add-on to help detect hormone abnormalities.

Additional tests may include measuring 17-hydroxyprogesterone, which is usually very high in people with the most common form. Genetic testing can confirm the diagnosis and identify the specific mutation. Newborn screening programs in all 50 states now test for congenital adrenal hyperplasia shortly after birth. If you have symptoms or a family history, blood testing can identify the condition at any age.

Treatment options

Treatment focuses on replacing the hormones your body cannot make and reducing excess androgens. Common approaches include:

Taking daily glucocorticoid medication to replace cortisol and reduce androgen production
Taking mineralocorticoid medication if your body does not make enough aldosterone
Increasing medication doses during illness, injury, or surgery to prevent adrenal crisis
Adding extra salt to your diet if you lose too much sodium
Taking anti-androgen medications or birth control pills to manage excess hair growth or irregular periods in women
Working with an endocrinologist who specializes in hormone disorders
Regular blood tests to monitor hormone levels and adjust medication doses
Wearing a medical alert bracelet in case of emergency
Genetic counseling for family planning decisions

With proper treatment, most people with congenital adrenal hyperplasia live healthy, active lives. The key is consistent medication and regular monitoring. Never stop taking your medication without talking to your doctor, as this can lead to a dangerous adrenal crisis.

Frequently asked questions

There is no cure for congenital adrenal hyperplasia because it is a genetic condition. However, it can be managed very effectively with daily medication. Most people with proper treatment live normal, healthy lives. The goal of treatment is to replace missing hormones and reduce excess androgens.

Congenital adrenal hyperplasia follows an autosomal recessive pattern. This means both parents must carry one copy of the mutated gene. Each child of two carriers has a 25% chance of having the condition, a 50% chance of being a carrier, and a 25% chance of neither. Genetic counseling can help families understand their specific risk.

Blood tests measure hormone levels including free testosterone, estrone, and 17-hydroxyprogesterone. People with congenital adrenal hyperplasia typically have high androgen levels and low cortisol. Rite Aid offers free testosterone and estrone testing as add-ons to help identify hormone imbalances. Your doctor may order additional specialized hormone tests based on your symptoms.

Yes, many women with congenital adrenal hyperplasia can get pregnant with proper treatment. Balancing hormone levels through medication improves fertility and menstrual regularity. Some women may need additional support from a fertility specialist. Close monitoring during pregnancy is important to adjust medication and ensure the best outcomes for mother and baby.

An adrenal crisis is a life-threatening emergency that happens when cortisol levels drop too low. Symptoms include severe vomiting, low blood pressure, confusion, and shock. You can prevent it by never missing your medication, increasing doses during illness or stress, and seeking emergency care if you cannot keep medication down. Always wear a medical alert bracelet.

Yes, all 50 states in the U.S. include congenital adrenal hyperplasia in newborn screening programs. A small blood sample is taken from the baby's heel within the first few days of life. Early detection allows treatment to start immediately, preventing serious complications. Some milder forms may not show up on newborn screening and are diagnosed later.

With proper treatment started early, most children reach a normal adult height. Untreated congenital adrenal hyperplasia can cause rapid early growth but early closure of growth plates, leading to shorter stature. The key is maintaining the right medication dose to control excess androgens without giving too much glucocorticoid. Regular growth monitoring helps doctors adjust treatment.

Most people need blood tests every 3 to 6 months to monitor hormone levels and medication effectiveness. Children and teens may need more frequent testing during growth spurts. Your doctor will order tests more often if symptoms change or medication doses are adjusted. Regular monitoring helps prevent both undertreatment and overtreatment.

While medication is essential, healthy lifestyle habits support overall wellness. Eating a balanced diet, managing stress, getting enough sleep, and staying hydrated all help your body function better. Some people need extra salt in their diet if they lose too much sodium. However, lifestyle changes cannot replace medication for this condition.

Take your missed dose as soon as you remember, unless it is almost time for your next dose. Never take a double dose to make up for a missed one. If you frequently forget doses, set phone reminders or use a pill organizer. Missing doses can lead to symptoms returning or even an adrenal crisis in severe cases.