What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) is the medical term for when a person has a group of genetic conditions that affect their adrenal glands. The adrenal glands, located above the kidneys, produce hormones like:

  • Cortisol (helps your body respond to illness or stress)
  • Mineralocorticoids (controls your sodium and potassium levels)
  • Androgens (like testosterone, for growth and development)

A gene change in people with congenital adrenal hyperplasia leads to the body not being able to make these hormones. There are two major types of congenital adrenal hyperplasia.

 

  • Classic CAH: The rare and more serious type is typically found after undergoing tests at birth or in early infancy.
  • Nonclassic CAH: The milder, more common type is sometimes not found until a person has entered childhood or early adulthood.

 

Speaking to your doctor once you notice symptoms of congenital adrenal hyperplasia is the best way to receive early and comprehensive treatment. A thorough treatment plan can improve your quality of life and overall health.

What are the symptoms of congenital adrenal hyperplasia?

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Symptoms differ for people living with congenital adrenal hyperplasia. Depending on the type of CAH that a person has and which gene is affected can change the apparent symptoms.

Classic CAH symptoms may include:

  • Irregular blood pressure, blood sugar, and energy levels (not enough cortisol)
  • Adrenal crisis (can be life-threatening)
  • Enlarged or distorted external genitals (seen with infants)
  • Too much androgen (can cause early signs of puberty, like acne and pubic hair, and a deeper voice in females)
  • Altered growth (shorter than average)
  • Fertility concerns for women and men (irregular/absent menstrual periods, trouble becoming pregnant)

 

There are not always obvious or present symptoms of nonclassic CAH. When a baby is born, there are no symptoms of the condition and it is not found on routine infant blood screenings. Symptoms may occur in late childhood or early adulthood, including:

  • Irregular/absent menstrual periods
  • Difficulty getting pregnant
  • Facial hair/more body hair than usual in females
  • Deeper voice in females
  • Rapid childhood bone growth
  • Shorter than average final height
  • Early puberty (pubic hair)
  • Severe acne

Anyone who is planning pregnancy or is pregnant with a greater risk of congenital adrenal hyperplasia should ask a healthcare provider about the steps to seek genetic counseling.

What causes congenital adrenal hyperplasia?

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Congenital adrenal hyperplasia is generally caused by a lack of an enzyme protein known as 21-hydroxylase. Lacking other rarer enzymes can also cause CAH, because the body is not producing the right level of hormones. The genetic condition is passed down from parents to their children. CAH is regarded as a rare condition and affects roughly 1 in 15,000 to 20,000 people around the world.

What are the risk factors of congenital adrenal hyperplasia?

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Factors that may lead to an increased risk of having congenital adrenal hyperplasia are:

  • Your parents both having CAH
  • Your parents both carry the changed gene that causes CAH
  • If you are of Ashkenazi Jewish, Latino, Mediterranean, Yugoslav, or Yup’ik descent

What are common complications of congenital adrenal hyperplasia?

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If you have classic CAH, there is a greater risk of facing an adrenal crisis. The condition can occur just days after birth or be triggered at any age from having an infectious illness or any physical stress, such as surgery. An adrenal crisis can cause:

  • Vomiting
  • Diarrhea
  • Dehydration
  • Low blood sugar levels
  • Confusion
  • Seizures
  • Shock
  • Coma

It is important to note that nonclassic CAH does not lead to adrenal crisis.

Is congenital adrenal hyperplasia preventable?

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There is currently no known way to prevent congenital adrenal hyperplasia. Talk to a healthcare provider and consult a genetic counselor if you are concerned or think you should do screenings before starting a family.

How is congenital adrenal hyperplasia diagnosed?

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Diagnosing the genetic condition can occur at different times. A healthcare professional may diagnose congenital adrenal hyperplasia:

  • Before birth
  • Shortly after birth
  • During childhood or adulthood

 

Prenatal Testing

Two ways that a healthcare professional can find CAH in fetuses at risk for the condition are:

  • Amniocentesis (removing a sample of fluid from the womb)
  • Chorionic villus sampling (taking cells from the placenta)

Once a baby is born, tests can be run to confirm if they have congenital adrenal hyperplasia.

 

Newborns and Infants

Screening tests to detect 21-hydroxylase deficiency can be done, and is recommended, within the first few days of a baby’s life. The test only identifies classic CAH, not the nonclassic form. Chromosomal tests can be run for female infants with different-looking outer genitals. Doing a pelvic ultrasound can also identify the presence of certain reproductive organs, like the uterus and ovaries.

 

Children and Adults

There are a number of tests that can be run later to find congenital adrenal hyperplasia, like:

  • Physical exam (for blood pressure, heart rate, and reviewing symptoms)
  • Blood and urine tests (for hormone levels outside of the standard range)
  • X-ray (if a child’s bones develop quicker than usual)
  • Genetic testing (to determine if CAH is causing symptoms)

Make sure to provide your complete medical history and as much family history as possible so that your physician can determine the test(s) that is the most appropriate for you.

How is congenital adrenal hyperplasia treated?

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A healthcare professional likely will either make a referral to a pediatric endocrinologist or an adult endocrinologist, depending on the patient. Other members of a treatment team may be:

  • Urologist
  • Psychologist
  • Reproductive endocrinologist
  • Geneticist

 

Physical treatments can range from medications to surgical procedures. Medicines are taken on a daily basis by people who are living with congenital adrenal hyperplasia. Other medicines or a higher dosage might be prescribed during illnesses or times of severe stress. Schedule regular checkups to make sure that your medicines are effective.

Reconstructive surgery is another option, particularly if it is needed to help the outer genitals function properly. If your child has classic CAH, you may also explore reconstructive surgery from an aesthetics mindset. Surgery:

  • Might involve making the clitoris smaller
  • Can allow rebuilding of the vaginal opening
  • Often occurs between three-to-six months of age
  • Might lead to additional cosmetic surgery later in life for females

Some parents may choose to delay surgery until their child is old enough to make an informed choice. Speaking with a healthcare team can shed light on the safest treatment options.

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