Congenital Adrenal Hyperplasia (CAH)

  • Congenital adrenal hyperplasia (CAH) is a genetic disorder in which the adrenal gland produces an overabundance of certain male hormones called androgens. As a result, a child with CAH is born with a reproductive tract that is not normally developed, and the child is neither “fully”  male nor female.

    Here are some basics about CAH:

    • CAH is one of the most common disorders of sexual differentiation and the most common cause of ambiguous genitalia in newborns.
    • CAH affects one in 5,000 to 15,000 babies in the United States and Europe. CAH affects newborns of both genders equally.
    • Females born with this condition are typically born with an enlarged clitoris, but with normal internal reproductive structures.
    • Males 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.
    • Females with CAH need hormone replacement therapy, and in some cases, reconstructive surgery. Males with CAH typically only require medical follow-up.
    • With medical management, surgical management and psychosocial support, children with CAH can lead full and healthy lives and enjoy a normal life expectancy.

    How Boston Children’s Hospital approaches congenital adrenal hyperplasia       

    The Disorders of Sexual Development (DSD) and Gender Management Service (GeMS) at Children's is a multidisciplinary clinic that treats children with CAH and other disorders of sexual differentiation. Here at GeMS, we’re sensitive to the both the physical and the psychosocial aspects of these conditions, and work closely with patients and their families to find the treatment that works best for everyone.

    Congenital Adrenal Hyperplasia: Reviewed by David A. Diamond, MD © Children’s Hospital Boston; posted in 2011

    Contact Us

    Gender Management Service (GeMS) Clinic

    Boston Children's Hospital
    300 Longwood Avenue
    Fegan 5
    Boston MA 02115


    617 355 6116
    fax: 617-730-0194

  • 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.

  • The first step in treating a child with congenital adrenal hyperplasia (CAH) is forming an accurate diagnosis. A baby can be diagnosed with CAH during pregnancy and the sex of the after birth, when a through physical examination and a series of tests are performed.

    How is CAH diagnosed?

    CAH can sometimes be detected and diagnosed during pregnancy through various prenatal tests. In some cases where there is a family history of CAH, treatment can be started when the baby is still in the womb to prevent the maculinizing effects on the female

    Why are prenatal tests used?

    Prenatal tests are various tests that are performed during pregnancy that identify a baby’s sex, age, size and placement in the uterus. Prenatal tests also detect some chromosomal abnormalities, congenital heart defects and other genetic problems.

    Before any parent decides whether or not to get prenatal testing, it’s important to know all the options and the advantages and disadvantages of each one. The two types of prenatal tests used to detect and diagnosis CAH are called screening tests and diagnostic tests.

    Screening Tests

    Screening tests determine what the chances are that a baby will be born with CAH or other birth defects.

    The different types of screening tests for CAH include:

    • Chorionic villus sampling (CVS), a prenatal diagnosis method in which a small biopsy of the placenta is taken for specific genetic testing. CVS is used to detect any condition that involves specific chromosomal abnormalities, like Down syndrome. This test is usually performed during the first trimester.
    • ultrasound, which is a non-invasive imagining technique that uses sound waves to generate an image of the fetus. An ultrasound can identify structural abnormalities that may indicate a diagnosis of CAH.

    Diagnostic tests

    Diagnostic tests are used after a baby is born. These tests can confirm a diagnosis of CAH and help determine the baby’s sex.

    Tests to diagnose CAH:

    • physical exams are used to evaluate a baby’s symptoms. If a doctor suspects CAH based on findings such as ambiguous genitalia, next step is to confirm the diagnosis with a blood test and ultrasound.
    • blood tests measure levels of the hormones produced by the adrenal gland—cortisol, aldosterone and androgen. A diagnosis can be made based on abnormal levels of these hormones.
    • karyotyping is a specific type of blood analysis that allows doctors to determine the genetic sex of the baby by measuring sex hormones in the blood.
  • 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.


    • 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.
  • Years ago, babies born with ambiguous genitalia were routinely "assigned" a gender by their physicians, and underwent treatment to match that assignment. Today, decision-making is much more individualized and is done in close consultation with the family.

    Beyond evaluating, diagnosing and treating infants, children and adolescents with disorders of the genital and urinary organs, the Department of of Urology at Boston Children’s Hospital is also looking to the future. Our physicians and researchers are leading a number of studies and trials on prenatal findings that are looking deeper into healthy psychosocial development in adolescents born with ambiguous genitalia. 

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