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A diagnosis of congenital adrenal hyperplasia (CAH) comes with a lot of questions and uncertainty about your child’s health, like:
At Boston Children’s Hospital, we know how important it is for parents and families to understand their child’s medical concerns. We’ve provided answers to common questions about CAH here, and when you meet with our team of doctors, they’ll be able to explain your child’s condition and options fully.
What is CAH?
What causes congenital adrenal hyperplasia (CAH)?
In normal pattern of sexual development, the adrenal gland and hormones function like this:
The adrenal glands and hormones:
glucocorticoids, which help modulate our sugar metabolism. The glucocorticoid involved in CAH is called cortisone.
mineralocorticoids, which modulate our fluids and electrolytes. The mineralocorticoid involved in CAH is called aldosterone.
sex steroid hormones, which aid in the formation of sex organs. The adrenal gland releases the male hormone androgen (testosterone) and the female hormone estrogen.
Hormones and CAH
In CAH, an enzyme deficiency blocks the pathways to the glucocorticoid and mineralocorticoid, impairing the body’s ability to produce cortisol and aldosterone.
The overabundance of androgen leads to the virilization (masculinization) of a female fetus. This is responsible for the ambiguous genitalia in females born with this condition.
While masculinization of a male fetus is possible, it’s less noticeable.
What are the symptoms of congenital adrenal hyperplasia?
At birth, boys usually appear to be unaffected and do not start to show symptoms until the first few years of life. Girls may display ambiguous genitalia, such as an enlarged clitoris and labia that resemble a scrotum. The internal reproductive organs (ovaries, uterus, fallopian tubes) are not affected by the disorder.
Boys may appear to enter puberty as early as 2 to 3 years old. The symptoms of this may include:
Girls may show the following changes:
Symptoms in infants may include:
Are there any medical complications associated with CAH I should be concerned about?
If CAH is not treated, a child’s features will become more masculine as the child continues to grow.
Other complications may include:
Q: What is congenital adrenal hyperplasia (CAH)?
A: (CAH) is a genetic disorder in which the adrenal gland produces an overabundance of certain male hormones called androgens. Girls born with this condition are typically born with an enlarged clitoris, but with normal internal reproductive structures. Boys born with this condition have normal genitals at birth, but may become more muscular or develop pubic hair and a deeper voice well before puberty.
Q: What caused my child to get CAH?
A: CAH is inherited, which means that the condition gets passed down from parent to child. Inorder for a child to be affected, both parents carry a gene for this disorder.
Q: Who’s at risk?
A: Because CAH is inherited, parents who have the condition or who are carriers for the genetic defect have an increased risk of passing it to their child. However, it’s uncommon to see the condition run in a single family since fertility rates in people with CAH are low. CAH is also known to run in certain populations, such as Ashkenazi Jews and Eskimos.
Q: Can CAH be prevented?
A: Even if they’re not affected by CAH, all parents should seek genetic counseling before conceiving a child. Although no testing can be done at that point, the doctor can look at your family’s medical history to see if you might have an increased risk for having a child with CAH.
Q: How will CAH affect my child?
A: CAH has a more noticeable impact on girls than boys. This is because CAH causes the body to produce testosterone and testosterone is a hormone that causes masculine attributes.
Males will require medical management, but they won’t need hormone replacement therapy, surgery or medications. 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.
Q: Will my child be able to function sexually?
A: Yes. With the proper surgical correction, children ought to be able to function sexually in a reasonably normal way.
Q: Will my child be able to have children?
A: Depending on the genetics of their condition, some people with CAH may be able to have children. However, people with CAH have a lower fertility rate than those who do not have the condition.
Q: What’s the long-term out-look for my child?
A: As long as your child remains on hormone replacement therapy, she will most likely lead a healthy normal life. Women with CAH have the potential to function normally as females from a sexual standpoint. However, have a lower fertility rate than females without CAH.
Q: How can I help my child?
A: Support from family and health care providers goes a long way in helping your child build healthy self-esteem. Making sure your child receives psychological counseling is also an important part in maintaining emotional and mental health. Children’s offers a variety of support services to parents and children.
If you are having trouble coping with your child’s CAH, we offer many support services that can help you to develop parenting strategies and feel less anxious.
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.”