Treatments for Congenital Adrenal Hyperplasia (CAH) in Children

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At Boston Children's Hospital, we understand that a diagnosis of congenital adrenal hyperplasia (CAH) can be troubling. You are probably wondering where to go from here and how to make sure your child receives the care she needs and deserves.

In general, the prognosis for people with CAH is dependent on medical management, surgical management, and psychosocial support. The techniques used in the treatment of CAH have improved significantly over the past 20 or 30 years. Now, more successful reconstructive surgeries are performed, resulting in female genitalia that's both functional and normal in appearance.

The treatment options for CAH may include:

Hormone stabilization

  • The first step in treatment for CAH is to put a baby on hormone replacement medication to even out the levels of hormones in the blood.
  • This is important because 75 percent of children with CAH are “salt-wasters”. This means that the child's adrenal glands are not producing enough of a mineral called aldosterone.
  • An insufficient amount of aldosterone can cause a child's body to rapidly lose salt. These babies require urgent steroid replacement or they could be at risk for going into shock.

Surgery

  • Once the hormonal therapies are in place, parents will consult with doctors to come up with a plan to correct any significant ambiguity of the genitalia.
  • Girls who are born with male-appearing genitalia often undergo reconstructive surgery (usually when a baby is a few months old) to reduce the clitoris size and make the vaginal opening better defined.
  • At Children's, our doctors prefer to do the reconstructive surgery when a baby is approximately 6 months old, after she's had the chance to stabilize medically and the risks of anesthesia are reduced. This waiting period also allows the clitoris to reduce in size through steroid management alone.

Hormone replacement therapy (HRT)

  • In terms of lifelong management of CAH, the goal is to keep hormone levels normal.

Will my child need surgery?

Boys with CAH don't require surgery. For a girl, it depends on how much virilization (masculinization) occurred in utero. In other words, the decision on whether or not to operate depends on how masculine her genitalia looks.

In mild cases, where there may just be a little enlargement of the clitoris or a little fusion of the labia, the doctor may decide that little or no surgery is necessary. In other cases, the girl might have been exposed to a lot of testosterone in utero, and it may look like she has penis and a urethra. In these cases, we may recommend more involved reconstructive surgery so she has separate openings for her vagina and urethra. 

Coping and Support

CAH can be emotionally hard for parents and children alike. Fortunately, there is a lot of support and help available to you.

Children's resources for families:

  • The Disorders of Sexual Development (DSD) and Gender Management Service (GeMS) at Boston Children's Hospital is a multidisciplinary clinic designed to treat the medical and psychosocial issues of infants, children, adolescents and young adults with disorders of sexual differentiation (DSDs). Our expert physicians and clinical staff work closely with your child and your family to find the treatment that works best for everyone involved
  • Children's Coping Program helps children who are being treated on an outpatient basis at the hospital—as well as their families—understand and cope with their feelings about:
    • being sick
    • facing uncomfortable procedures
    • handling pain
    • taking medication
    • preparing for surgery
    • changes in friendships and family relations
    • managing school while dealing with an illness
    • grief and loss

Visit the Behavioral Medicine and Coping Program page or call us at 617-355-6688 to learn more.

For teens

Adolescence can be stressful—even for physically healthy teens. Having a condition like CAH during adolescence further complicates life for teenagers.

  • Support for teen boys: As a boy with CAH reaches adolescence, he may look and feel different from other males his age. Young Men's Health (YMH) is a website that provides health information for teen boys and young men.
  • Support for teen girls: Girls with CAH can experience their own set of difficulties when they enter puberty, such as exhibiting more masculine behavior than other girls their age. The Center For Young Women's Health offers the latest gender-specific information about sexual and emotional health.
  • The Medical Coping Team at Boston Children's Hospital works with teens and their families to help them adjust to the stress caused by chronic illness. Our experienced team of pediatric psychologists, psychiatrists and other mental health professionals provide effective, compassionate evaluation, education, counseling and therapy to help teens cope.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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