Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia is a type of disorder that children can inherit. The disorder affects a child’s adrenal glands, which are located above each kidney. The glands make important hormones, including hormones that affect how well your child’s body maintains normal fluid levels and hormones related to sex organs and fertility.

What is Congenital Adrenal Hyperplasia (CAH)?

A rare birth defect, congenital adrenal hyperplasia, or CAH, has many different types. It often can cause girls to have symptoms that make them appear more like boys, or causes children to enter puberty sooner than is normal. Children who have the disorder require treatment from pediatric specialists who are familiar with enzyme disorders affecting the adrenal glands.

What are the signs and symptoms of Congenital Adrenal Hyperplasia (CAH)?

If your child has the classic type of CAH, doctors usually recognize the signs when your child is born or is a young infant.  Failure of your child’s adrenal glands to make enough of a hormone called aldosterone leads to water and salt loss in your child’s urine and severe dehydration. Parents may notice symptoms of classic, or classical, CAH in newborns, such as:

Doctors examine infants for signs of classic CAH, including problems with heart rhythm, blood pressure, levels of certain substances in the blood, and your child’s genitalia, or external sex organs.

  • Girls with classic CAH may be born with normal internal reproductive organs but external organs not typical of girls.
  • Boys may be born with enlarged genitalia.

Children also may develop signs as they age, such as deeper voices than normal, severe acne and early or excess hair on their faces or armpits.

Your child might have such mild symptoms of nonclassic CAH that you won’t know they have the disorder. Or your child may show symptoms of nonclassic CAH during childhood, teen years or early adulthood, including:

  • Rapid growth, but to a height less than both parents
  • Acne
  • Early signs of puberty
  • Irregular menstruation and fertility problems in girls
  • Hair loss near the temples in boys
  • Enlarged penis or small testicles in boys
  • Excess facial or body hair in girls

How is Congenital Adrenal Hyperplasia (CAH) diagnosed?

Prenatal testing

If you are pregnant and have a child with CAH, you have a one in four chance of having another child with CAH. Prenatal testing can identify some forms of CAH.

  • Your doctor might perform amniocentesis, which involves using a needle inserted into your womb through your abdomen to draw out a small fluid sample from the amniotic sac that surrounds the fetus.
  • A test called chorionic villus sampling is similar, but collects a small sample of tissue from the part of your womb that will become the placenta. It can be done a few weeks earlier than amniocentesis.

Newborn screening

Classic CAH usually is detected as part of newborn screening in all states. Sometimes, a child is born with signs or symptoms of CAH even after negative screening. In this case, the doctor may request further testing.

Physical exam and additional testing

Newborn screening does not detect nonclassic CAH, and symptoms of the nonclassic type do not show up until children are older. Doctors first look for signs of CAH in a physical examination. They may use blood tests, genetic tests and imaging examinations to diagnose nonclassic CAH. Sometimes X-rays of a child’s hand and wrist can help doctors compare the age of a child’s bone with the typical bone age of children the same age. The doctor also might take x-rays of your child’s urinary tract and genital organs.

Your child’s doctor may use ultrasound to examine your child’s bladder and urinary tract and to check his or her internal reproductive organs. Ultrasound uses high-frequency sound waves and echoes to create pictures on a monitor. Computed tomography (CT) scans of the adrenal glands can check for clues about your child’s CAH.

How is Congenital Adrenal Hyperplasia (CAH) treated?


The only way to prevent CAH is for parents who know they have the altered gene to avoid having children. Couples considering having children can ask about genetic testing and counseling.


If your child is diagnosed with congenital adrenal hyperplasia, you will most likely need help from a pediatric doctor who specializes in treating rare birth defects and other disorders of the urinary tract and genital organs.

Classic CAH - Children who are born with severe forms of the rare disorder called classic CAH may need immediate treatment to prevent serious illness from salt wasting, a complication of the disease’s effects on the child’s adrenal glands.

If your child is born with ambiguous genitalia, or sexual organs on the outside that do not clearly match most boys’ and girls’ organs, your child’s doctor may watch your child closely for signs of salt wasting. Salt wasting is excess loss of salt and water through urine.

Doctors usually treat infants and children who have severe dehydration or electrolyte imbalances with intravenous (IV) fluids and nutrients to restore balance in the body’s metabolism.  Your child might receive therapy with certain hormones, especially a hormone called cortisol, that the adrenal glands have stopped producing as they should. They may need medical attention or hormones during illness or times of stress. You should make sure your child with classic CAH has a medical alert bracelet to let emergency workers know about the condition. Doctors also may train parents and other family members or caregivers on how to give hydrocortisone injections in emergencies.

Nonclassic CAH - If your child has nonclassic CAH, your child’s doctor may not treat the disorder until symptoms appear. If your child has symptoms, the doctor might provide cortisol, but in lower doses than for children with more severe classic CAH symptoms.

Hydrocortisone Injection Video

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How to administer Hydrocortisone Injections.

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Como administar Inyeccion de hidrocortisona.

This injection should be used when your child cannot take Hydrocortisone or Prednisone by mouth due to vomiting or unconsciousness. Please utilize this video as a periodic refresher so that if or when you need to give this injection you feel comfortable doing so. After administering Solu-Cortef, you should call 911 or call our office at 214-456-5959. Learn more about hydrocortisone injections in children.



Some children also have surgery to correct appearance of their genital areas. Use of the surgery should be performed after your child is medically stable and after careful discussions with your child’s doctors, social workers or other mental health professionals. Corrective surgeries for CAH should only be performed by doctors who have experience in CAH surgery and who work in urology centers or departments that treat many children with the disorder.

Congenital Adrenal Hyperplasia (CAH) Doctors and Providers

Frequently Asked Questions

  • Does my child outgrow CAH?

    Although many of the symptoms and problems associated with CAH cause problems in infants, children and teens, CAH can cause some complications and health problems into adulthood. Some women have issues with fertility. Many adults with CAH are shorter than average for their age. It is important to consider medical support and mental health support if necessary to help your child deal with gender identity effects of the disease.

  • Do the steroids used to treat CAH cause harmful side effects?

    Children who have CAH cannot make certain hormones in their adrenal glands, including cortisol. Because the medication replaces the hormones your child’s body isn’t making, it does not produce the side effects usually associated with steroid use. You should not stop your child’s cortisol medication suddenly because it can cause a serious health problem. Always check with the doctor first.

  • Are people from some ethnic groups at more risk for CAH?

    Some types of nonclassic CAH are more common in people who are of Italian, Hispanic and Ashkenazi Jewish descent. Many will have no symptoms, but can pass the disease on to their children. Classic CAH is rare in all ethnic groups, occurring in only about 1 of every 15,000 births around the world.

  • Can a woman with CAH have children?

    Most women who have CAH can get pregnant. A few women have irregular release of eggs, or ovaries, and irregular menstruation. This might make getting pregnant or planning a pregnancy more difficult. A doctor who specializes in fertility issues can help.

  • How can I help my child with CAH stay healthy?

    Sometimes, it is difficult for people who have CAH to maintain a healthy weight. They also can have trouble controlling their blood pressure and insulin, the hormone related to blood sugar and diabetes. Helping your child eat a balanced diet and promoting daily exercise can improve his or her health. It also is important to keep doctor appointments, follow instructions for home care and report any problems, concerns or complications to your child’s doctor.