Treatments and drugs

By Mayo Clinic Staff

To treat congenital adrenal hyperplasia, it's best to get a referral to a specialist in childhood hormonal issues (pediatric endocrinologist). Treatments include:

  • Medications. In most cases, your child's doctor will prescribe replacement hormone medication to boost the levels of deficient hormones in your child and restore them to normal levels. For example, your child may take an oral drug — such as hydrocortisone or dexamethasone to replace cortisol and fludrocortisone to replace aldosterone — on a daily basis. At times, children with congenital adrenal hyperplasia need multiple drugs, with even higher doses prescribed during periods of illness or severe stress, including surgery.

    Steroid-type replacement medications may cause side effects, particularly if the doses are high and are used long term. Your doctor will monitor your child for medication side effects, such as the loss of bone mass and impaired growth, and will also order regular blood tests to see if medications need adjusting. Keep all scheduled appointments so that your doctor can regularly check your child's progress, including monitoring changes in height, weight and blood pressure.

    Treatment for girls with classic congenital adrenal hyperplasia involves a careful balance of the right amount of cortisone medications. Adequate cortisone replacement is needed to suppress androgens, allowing for normal height and minimizing masculine characteristics. However, too much cortisone may cause Cushing's syndrome. Your doctor will schedule regular tests to monitor your child for these side effects.

    As adults, some men and women with congenital adrenal hyperplasia are able to stop taking their replacement hormone medications. However, others, particularly people with the classic form of the disease, may need to take replacement hormone medications indefinitely.

  • Surgery. In some infant girls who have ambiguous external genitalia, doctors recommend reconstructive surgery to correct the appearance and function of the genitals. This procedure may involve reduction of the clitoris size and reconstruction of the vaginal opening. The surgery is typically performed between 2 and 6 months of age.

Prenatal management

Sometimes, treatment for congenital adrenal hyperplasia can begin before your child is born.

When congenital adrenal hyperplasia is diagnosed in the fetus, one option is for the pregnant mother to take a powerful corticosteroid drug, such as dexamethasone, before giving birth. Corticosteroids can cross the placenta and suppress the activity of the fetus's own adrenal glands. By reducing the secretion of male hormones (androgens), this approach may allow female genitals to develop normally. It can also reduce the masculine features that may develop later in female fetuses. When the fetus is male, doctors may recommend a shorter course of lower dose dexamethasone treatment during pregnancy to keep the adrenal glands functioning as normally as possible.

Although the use of dexamethasone can be effective, many doctors prescribe it with caution, as there's no clear evidence yet about the long-term safety of this drug in children with this condition.The medication can also cause side effects in the pregnant mother, including excess weight gain, mood swings and high blood pressure. This treatment is still considered experimental by many doctors.

Prognosis

Many children with congenital adrenal hyperplasia can successfully manage the condition by staying on their replacement hormone medications. They grow up to lead lives in good health and with a normal life expectancy. However, they may be shorter than their parents. And both men and women may have fertility problems in adulthood.

Girls who have corrective genital surgery may need further cosmetic surgery later in life. When they become sexually active, they're more likely than are women who have not had genital surgery to experience sexual problems, such as pain during intercourse.

Some advocates of children with ambiguous genitalia argue that corrective surgery shouldn't be performed until a child is old enough to understand the risks and choose his or her own gender assignment. However, most experts recommend performing corrective genital surgery when girls are very young because the surgery is technically easier than it is in later years.

Before making decisions about the best treatment approach for your daughter, talk with your doctor about these issues. Working together, you and your doctor can make informed choices that will help your daughter thrive.

Mar. 07, 2014