Treatment

Your doctor will likely refer your child to a specialist in childhood hormonal issues (pediatric endocrinologist) for treatment of congenital adrenal hyperplasia. The health care team may also include other specialists, such as urologists, psychologists and geneticists, as needed.

Treatment will depend on the type of CAH and the severity of symptoms and is aimed at reducing excess androgen production and replacing deficient hormones. People with nonclassical CAH may not require treatment or may need only small doses of corticosteroids.

Medications

Your child's doctor may prescribe replacement hormone medication taken on a daily basis to restore normal levels of deficient hormones. Additional medications or higher doses may be needed during periods of illness or significant stress such as surgery.

Medications may include:

  • Corticosteroids to replace cortisol ― this is the main treatment
  • Mineralocorticoids to replace aldosterone to help retain salt and get rid of excess potassium
  • Salt supplements to help retain salt

Monitoring the effectiveness of medication includes regularly scheduled:

  • Physical exams. The doctor can check your child's growth and development, including monitoring changes in height, weight, blood pressure and bone growth.
  • Monitoring for side effects. The doctor can also monitor your child for side effects, such as the loss of bone mass and impaired growth, particularly if steroid-type replacement medication doses are high and used long term.
  • Blood tests to check hormone levels. It's critical to have regular blood tests that indicate whether medications need adjusting. Adequate cortisone replacement is needed to suppress androgens, allowing for normal height in growing children and minimizing masculine characteristics in females. However, too much cortisone may cause Cushing's syndrome.

As adults, some men and women with nonclassic CAH are able to stop taking their replacement hormone medications. But others, particularly people with symptoms or with the classic form of CAH, may need to take replacement hormone medications indefinitely.

Possible reconstructive surgery for females

In some female infants with severe ambiguous genitalia as a result of classic CAH, reconstructive surgery to normalize the appearance and function of the genitals may be recommended.

This procedure may involve reducing the size of the clitoris and reconstructing the vaginal opening. The surgery is typically performed between 2 and 6 months of age. Females who have corrective genital surgery may need more cosmetic surgery later in life.

Some parents choose to wait for surgery until their child is old enough to understand the risks and choose his or her own gender assignment. However, performing corrective genital surgery when females are very young is technically easier than it is in later years.

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

Psychological support can be important to the emotional health and social adjustment of females with genital abnormalities.

Prenatal management

When identified before birth, treatment for CAH can begin while the fetus is still in the womb. A synthetic corticosteroid that crosses the placenta to the infant can be taken by the mother during pregnancy. This may reduce the secretion of male hormones (androgens), allowing female genitals to develop normally.

This treatment is still considered experimental. There's no clear evidence yet about the long-term safety of this drug. Because of the side effects and how the treatment might affect brain development, this remains a controversial treatment.

Prognosis

Many children with CAH can successfully manage the condition by staying on their replacement hormone medications. They grow up to lead healthy lives with a normal life expectancy.

Aug. 11, 2017
References
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