What Is Congenital Adrenal Hyperplasia?
Congenital adrenal hyperplasia (CAH) is a group of hereditary
disorders that affect the adrenal glands. The adrenal glands produce the hormones
cortisol and aldosterone. CAH is caused by genetic
defects that prevent these glands from producing these two hormones either
entirely or at normal rates. Everyone has two of these glands, one on top of
each kidney. Cortisol is sometimes called the stress hormone because it’s
released when you’re under stress. It helps control blood sugar. Aldosterone
helps the kidneys function and balance electrolytes.
The defect that causes CAH is passed down from both parents to
their child. According to the National
Organization for Rare Diseases, CAH occurs in around one out of every
Types of Congenital Adrenal Hyperplasia
According to the National Adrenal
Diseases Foundation, classical CAH accounts for around 95 percent of all
CAH cases. It mainly occurs in infants and young children. The adrenal glands
normally produce cortisol and aldosterone with the help of an enzyme known as
21-hydroxylase. With classical CAH this
enzyme is missing, which means your adrenal glands can’t make these
In addition, your body starts making too much of a male sex
hormone called testosterone.
This causes masculine characteristics to appear in girls and develop early in
boys. These characteristics include:
- being tall for your age
- having a deep voice
- early growth of pubic or armpit hair
Although as a child CAH can make you taller than other children,
as an adult you could be a little shorter than average.
Nonclassical or Late-Onset CAH
Nonclassical or late-onset CAH is a milder type that occurs in
older children and young adults. This type is caused by a partial enzyme deficiency instead of
the enzyme being completely absent. If you have this type of CAH, your adrenal
glands can make aldosterone, but not enough cortisol. Testosterone levels are
also lower in late-onset CAH.
There are other types of CAH, but they are very rare. These
include 11-beta-hydroxylase, 17-alpha-hydroxylase, and 3-beta-hydroxysteroid
Symptoms of Congenital Adrenal Hyperplasia
Infant girls with classical CAH typically have a larger clitoris.
Some infant boys have an enlarged penis. Other symptoms in babies include:
- weight loss
- poor weight gain
Children with classical CAH often go through puberty earlier than
normal and also grow faster than other kids but end up being shorter than others
in adulthood. Women with this type of CAH usually have irregular menstrual
cycles. Both women and men may experience infertility.
Nonclassical or Late-Onset CAH
Occasionally, people with this type of CAH don’t experience any
symptoms at all.
Girls and women with late-onset CAH may have:
- irregular periods or a lack of menstruation,
- increased facial hair growth
- deep voice
Some men and women with this type of CAH start puberty early and
grow rapidly when they’re young. As with classical CAH, they are usually
shorter than average when fully grown.
Other signs and symptoms of nonclassical CAH in men and women
- low bone density
- severe acne
- elevated cholesterol
When Is CAH Dangerous?
One possible complication of CAH is an adrenal crisis. This is a rare
but serious condition, occur in small percentage of individuals who are treated with glucocorticosteroids. Management during illness or stress can be challenging and within hours can result in decreased blood pressure, shock, and death. Signs and symptoms of
this condition include:
- low blood sugar levels
An adrenal crisis requires prompt medical attention.
Treatment Options for Congenital Adrenal Hyperplasia
The most common form of treatment for CAH is taking a replacement
hormone medication on a daily basis. This helps bring your affected hormones
back up to normal levels and lessens any symptoms.
You might need more than one type of medication or a higher dose
of your regular hormone replacement when you’re sick or dealing with excess
stress or illness. Both can affect your hormone levels. You can’t outgrow CAH.
People with classical CAH will require treatment for the rest of their lives.
Nonclassical CAH patients could be symptomatic or non-symptomatic. Symptomatic children should start medication therapy at the first signs of precocoious puberty or bone age acceleration. Adult nonclassical CAH patients might not need treatment when they become adults, as
their symptoms may be less noticeable with age.
Girls between the ages of 2 to 6 months can have a surgery called
feminizing genitoplasty in order to change the look and function of their
genitals. This procedure might need to be repeated when they’re older. According
to one study, women
who had this procedure are more prone to feeling pain during intercourse or may
experience a loss of clitoral sensation later in life.
Emotional Support: How Do I Cope with CAH?
If you have classical CAH, it’s normal to have concerns about
your physical appearance and how your condition affects your sex life. Pain and
infertility are also common concerns. Your doctor may be able to refer you to a
support group or counselor to help you cope with the condition. Speaking to an
unbiased listener or others with the same condition can help you relate and help
lessen the emotional issues related to CAH.
Prenatal Screening: Will My Baby Have It?
If you’re pregnant and CAH runs in your family, you may want to
go in for genetic counseling. Your doctor can examine a small piece of your
placenta during your first trimester to check for CAH. In your second
trimester, your doctor can measure the hormone levels in your amniotic fluid to
determine if your baby is at risk. When your baby is born, the hospital can
test for classical CAH as part of your newborn’s routine screenings.
Can I Prevent It in My Baby?
If your baby is diagnosed with CAH in utero, your doctor might
suggest you take a corticosteroid while you’re pregnant. This type of
medication is often used to treat inflammation, but it can also limit the
amount of androgens produced by your baby’s adrenal glands. This can help your
baby develop normal genitals if she’s a girl, and if your baby is a boy, your
doctor will use a lower dose of the same medication for a shorter period of
time. This method isn’t widely used because the long-term safety of it for
children isn’t clear. It can also cause unpleasant and potentially dangerous
side effects in pregnant women, including high blood pressure and mood swings.