Congenital Adrenal Hyperplasia (CAH) Symptoms & Causes

A diagnosis of congenital adrenal hyperplasia (CAH) comes with a lot of questions and uncertainty about your child’s health, like:

  • Will my child be OK?
  • Will she look normal?
  • Will she have gender identity issues?
  • Will my child be able to have children?
  • What are the treatment options?
  • What’s the long-term outlook for my child?

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?

  • CAH is a genetic disorder of the adrenal glands. If your child has this condition, it means that her adrenal glands don’t produce enough of the vital hormones cortisol and aldosterone. As a result, her body produces too much androgen.
  • When there is not enough cortisol and aldosterone, the body will make too much of certain male steroid hormones called androgens. The overabundance of androgens is responsible for the ambiguous genitalia in females born with this condition.
  • CAH is one of the most common disorders of sexual differentiation (DSDs), which describes a wide range of diseases in which development of the sex organs does not occur as it normally would.
  • CAH is also the most common cause of ambiguous genitalia, a term which describes children whom you cannot tell by looking at their genitals whether they’re male or female.


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:

  • Adrenal glands, which are located on the top of each kidney, are responsible for releasing three different types of steroid 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.

  • Normally, the adrenal gland secretes the hormones directly into the blood stream, in three equally prominent metabolic pathways. This balance allows for the normal production of androgen and 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:

  • deep voice
  • early appearance of pubic and armpit hair
  • enlarged penis
  • small testes
  • well-developed muscles

Girls may show the following changes:

  • abnormal menstrual periods
  • failure to menstruate
  • ambiguous genitalia, often appearing more male than female
  • deep voice
  • early appearance of pubic and armpit hair
  • excessive hair growth and facial hair

Symptoms in infants may include:

  • weight loss
  • vomiting
  • failure to thrive (inability to grow and gain weight, especially in infants and toddlers)
  • dehydration
  • vomiting

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:

  • adrenal crisis, a life-threatening condition that occurs when there is not enough cortisol.
  • short height as an adult, even if growth was rapid during childhood
  • side effects of steroid medications used as treatment
  • tumors of the testes can occur in adult men
  • high blood pressure
  • low blood sugar


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.