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Genetic Fact Sheets for Parents
Draft Disorders
Screening, Technology, and Research in Genetics is a multi-state project to improve information about the financial, ethical, legal, and social issues surrounding expanded newborn screening and genetic testing – http:// www.newbornscreening.info Disorder name: Congenital Adrenal Hyperplasia
Acronym:

What is CAH?
What causes CAH?
If CAH is not treated, what problems occur?
What is the treatment for CAH?
What happens when CAH is treated?
What causes the 21-hydroxylase enzyme to be absent or not working
correctly?
How is CAH inherited?
Is genetic testing available?
What other testing is available?
Can you test during pregnancy?
Can other members of the family have CAH or be carriers?
Can other family members be tested?
How many people have CAH?
Does CAH happen more often in a certain ethnic group?
Does CAH go by any other names?
Where can I find more information?
This fact sheet contains general information about congenital adrenal hyperplasia
(CAH). Every child is different and some of these facts may not apply to your
child specifically. Certain treatments may be advised for some children but not
others.
There are a number of different inherited causes of CAH. This fact sheet
describes 21-hydroxylase deficiency (21-OHD) which accounts for about 95% of
all cases of CAH. The other causes of CAH are not covered in this fact sheet but
are listed at the end.


Congenital Adrenal Hyperplasia
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What is CAH?
CAH stands for “congenital adrenal hyperplasia”. CAH is an inherited condition
that affects the adrenal glands and causes a number of specific health issues.
‘Congenital’ means the condition is present at birth. The adrenal glands are
cone-shaped organs that sit on top of each kidney. They make a number of
hormones necessary for healthy body function. Hyperplasia means ‘overly
large’. In people with CAH, the adrenal glands cannot make enough of a
hormone called cortisol. As they start working harder in attempts to make more
cortisol they increase in size, resulting in hyperplasia.
Babies with CAH are born with a number of physical changes. Their adrenal
glands are often larger than normal, even at birth. Girls with CAH may be born
with external sex organs that appear more masculine than they should. If not
treated, both boys and girls will develop early sexual characteristics, well before
normal puberty should begin.
What causes CAH?
Normally, the adrenal glands make a number of different hormones, including
cortisol, aldosterone and androgens. Hormones are chemicals that send
messages to other organs or tissues of the body, telling them to do specific
things.
CAH occurs when a particular enzyme called 21-hydroxylase (21-OH) is missing
or not working correctly. The job of this enzyme is to help make cortisol and
aldosterone in the adrenal glands so they can be released when the body needs
them.
One of the main jobs of cortisol is to keep the amount of glucose, the sugar used
for energy by the body’s cells, at a normal level. Cortisol also helps protect the
body during times of physical or emotional stress such as surgery, injury or
illness. It helps to regulate the immune response and inflammation so our bodies
can deal with infection or illness.
Another hormone made by the adrenal glands is aldosterone. This hormone is
released into the blood when the blood pressure drops too low. It tells the
kidneys to pull salt and water out of urine and put it back into the blood. This
raises blood pressure back to normal and prevents the body from losing too
much fluid. Babies with a form of CAH called “salt-wasting’ do not make enough
aldosterone and they lose too much salt and water in their urine. They become
dehydrated and their blood pressure drops too low. This can be life-threatening if
not treated quickly.
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The other hormones made by the adrenal glands are called androgens. These are male-like sex hormones. The adrenal glands also make a small amount of female hormones. Most people with CAH make too much of the androgen hormones and not enough cortisol or aldosterone. Having too much of the androgen hormones in the blood causes female babies to develop masculine changes to their genitals. And, high levels of androgens lead to early sexual development, well before the normal age of puberty, in both boys and girls.

If CAH is not treated, what problems occur?
The effects of CAH can vary greatly from person to person. There are a number
of different forms of CAH which are described below.
Most babies found to have CAH during newborn screening have ‘classic CAH’.
One type of classic CAH is called ‘salt-wasting’ which is a serious condition
needing immediate treatment. The other type of classic CAH is called ‘simple
virilizing’. Children with this type do not have immediate risks to their health but
still need treatment.
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A small number of children are found through newborn screening to have
‘nonclassic CAH’ which often causes fewer health problems. The symptoms of
nonclassic CAH are quite variable from person to person.
Classic CAH – “Salt-wasting form”
About 75% of babies with classic CAH have the ‘salt-wasting’ form. Salt-wasting
CAH occurs when the adrenal glands make lower amounts of both cortisol and
aldosterone and too much androgen. Babies who do not make enough
aldosterone will start losing too much water and salt in their urine. This can
quickly cause dehydration and very low blood pressure. This can be life-
threatening if not treated right away.
Infants with salt-wasting CAH usually show some of the following features within
the first few weeks of life:
• Too much acid in the blood, called metabolic acidosis If not treated, severe dehydration leads to shock, a serious situation in which not enough blood is getting to the brain and other organs. In babies with salt-wasting CAH, this is also called an ‘adrenal crisis”. The signs of an adrenal crisis include: Periods of adrenal crisis due to too little aldosterone can occur as early as one week to one month of age. If a child in shock is not treated, there is a risk of death. Even when carefully treated, children with salt-wasting CAH are still at risk for adrenal crises when they become ill or are under stress. The body needs more than the usual amount of adrenal hormones during illness, injury or stress. This means a child with CAH must be given more medication during these times to prevent an adrenal crisis. All babies with salt-wasting CAH have the other features of classic CAH listed below. Girls with salt-wasting CAH usually have more male-like changes to their genitals than girls with simple virilizing CAH. Congenital Adrenal Hyperplasia
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Classic CAH – Simple virilizing form
About 25% of babies with CAH have the simple virilizing form. The adrenal
glands make enough aldosterone but not enough cortisol; they also make too
much androgen.
Classic CAH starts its effects before birth. Excess androgen hormones are made
by the fetus. This causes the genitals of female fetuses to develop male-like
features. Baby girls born with classic CAH often have an enlarged clitoris. In
some girls this is not very noticeable, but in others it may look like a small penis.
Baby girls may also have labia which are fused together, may be wrinkled and
may look more like a male scrotum. Some baby girls have fewer genital changes
than others. The degree of male-like change is not something that can be
predicted before birth. The high level of androgen hormones does not affect the
uterus and ovaries, which develop normally.
Girls who are not treated may develop other male-like traits and behaviors as
they grow. Some of these changes may include:
• Lack of menstrual periods or scanty or irregular periods • Early puberty changes such as hair in the armpits and pubic area • Male-pattern baldness (loss of hair near the temples) Boys who are not treated may have some of the following traits: • Pubic hair and underarm hair during childhood Sometimes the changes of early puberty happen in boys and girls as young as two to four years old. Both boys and girls may have rapid growth during childhood but end up being quite short as adults. Excess androgen hormones in childhood cause the rapid growth. The androgens also cause shorter adult height by closing the growth plates too soon. Some untreated adults also have problems with infertility and may have difficulty achieving pregnancy. Children with simple virilizing CAH are not at risk for severe adrenal crises like those with salt-wasting form. However, illness or stress increases the body’s need for cortisol. If children with CAH do not receive increased amounts of medication during illness or stress, they are at risk for healthy problems. Congenital Adrenal Hyperplasia
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Nonclassic CAH / Late-onset CAH
Nonclassic CAH, also called ‘late-onset’, usually causes milder effects than
classic CAH. However, symptoms can be quite variable from person to person.
Many people with nonclassic CAH often start showing signs during childhood,
adolescence, or early adulthood. Some people never develop symptoms.
Newborn screening can detect some, though not all, babies with the nonclassic
form of CAH.
Babies with nonclassic CAH are usually healthy at birth and their genitals are
normal in appearance. They do not have salt-wasting and are not at risk for
adrenal crises.
Children and adults with nonclassic CAH have adrenal glands that make near-
normal amounts of cortisol and normal amounts of aldosterone. However, they
have too much 17-OHP, a chemical used to make cortisol, in their blood. They
also make make too much of the androgen hormones.
Some of the traits that are sometimes seen in both males and females with
nonclassic CAH include:
• Rapid growth in childhood and early teens with short adult height • Early puberty with development of pubic hair, underarm hair and body • Excess hair on the face and other parts of the body • Male-pattern baldness (hair loss near the temples) • Male-like changes in physical appearance and behavior • Irregular menstrual periods or early-onset of periods
What is the treatment for CAH?
Your baby’s primary doctor may work with a pediatric endocrinologist to provide
medical care to your child. It is important for babies with classic CAH to be
diagnosed as quickly as possible. This allows treatment to begin soon after birth
which helps reduce the effects of CAH.
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The main treatment for classic CAH is a drug called ‘hydrocortisone’ (also called
‘cortisone’), taken in pill form. This medication replaces the cortisol that your
baby cannot make on his or her own. It must be taken daily throughout life to
prevent effects of CAH.
Treatment for Classic CAH – both simple virilizing and salt-wasting forms:

Cortisone medication
The main treatment is to replace the amount of cortisol not being made by the adrenal glands. Hydrocortisone, a synthetic form of cortisol, is given by mouth in pill form. This treatment lessens the amount of androgens, prevents early puberty, and allows for more typical growth and development. Your doctor will follow your child’s growth, blood pressure, and hormone levels throughout childhood. The level of medication needed to control symptoms will be adjusted as needed throughout your child’s life. It is important to always follow your doctor's orders on how much cortisone to give your child. Too much cortisone can cause temporary symptoms of Cushing syndrome so the dose must be carefully balanced to your child’s height, weight and activity level. Signs of Cushing syndrome include: stretch marks on the skin, rounded face, weight gain, high blood pressure, and bone loss. In addition, always call your doctor at the start of any illness. The body needs more cortisol during illness, injury or times of stress. Therefore, the cortisone dosage must be increased by your doctor when your child is ill, injured or under emotional or physical stress. If your child is ill and cannot take the pills, cortisone injections may be necessary. Your doctor may advise you to carry an emergency treatment letter with steps for your child’s care during stress or illness. Children with CAH should also consider wearing a Medic-Alert bracelet. Hydrocortisone must be taken throughout life to prevent CAH effects. If the medication is stopped, symptoms will develop. Surgery for girls with classic CAH
Girls who are born with an enlarged clitoris or changes to the labia have the option of surgery to change their outer genitals to a more female appearance. Some women who have CAH have not had surgery and are happy they did not. Others are glad their parents decided to give them the surgery. This is a complex decision made by the parents with guidance from their doctors. Parents who are not sure about surgery may want to talk with other families who have faced similar decisions. If you choose corrective surgery, it can be done as early as age one to three. Surgery on the clitoris usually hides the excess tissue but leaves the clitoris itself Congenital Adrenal Hyperplasia
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intact. Surgery to separate the labia and to create a normal vagina is often delayed until the teenage years. Ask your doctor about the risks and benefits of surgery for these changes and the best time to do these surgeries. Treatment to prevent short stature
Your doctor may take periodic X-rays to check your child’s ‘bone age’. This
allows your doctor to tell whether your child is growing at too rapid a rate. It also
shows whether the growth plates are still open or whether they are closing too
early.

Specific medications may help increase height in children and teens that show
signs of early growth failure. Certain medications lower androgen levels. For
other children, human growth hormone, given by injection, helps increase adult
height. If you have questions about your child’s growth, talk to your doctor about
the costs and benefits of these treatments.
Treatment for early puberty
Children who show changes of puberty at a young age are sometimes treated
with medications that lower the amount of androgen hormones. Your doctor will
talk to you about these medications should your child start showing signs of
puberty during childhood.
Additional treatment for classic CAH – salt-wasting form
Children with salt-wasting CAH need to take an additional medication called
Florinef. Florinef (9a-fludrohydrocortisone) is a ‘salt-retaining’ drug that replaces
the aldosterone absent in children with salt-wasting CAH. It is given by mouth in
pill form.
Some children with salt-wasting CAH need to follow a food plan that contains
more salt than usual. In addition, your doctor may recommend salt tablets to
prevent dehydration. It is important to follow your doctor’s instructions on how
much salt to feed your child. Some children on medication do not need to add
extra salt to their diets.

Treatment for nonclassic CAH
Some people with nonclassic CAH do not need treatment and may go through
life without symptoms. Others begin having symptoms in childhood, adolescence
or young adulthood and may need medication in the form of cortisone pills.
Symptoms that may signal the need for treatment include:
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Children and adults with nonclassic CAH usually need less medication than
children with classic CAH.

What happens when CAH is treated?

Children with CAH who start treatment soon after birth usually have normal
growth and development. In most treated children, puberty occurs at the normal
age, although some still have early changes. Even when treated, some adults
are shorter than average.
Girls on medication usually have normal menstrual periods. Pregnancy is
possible, although fertility may be lessened in some women.
Children with salt-wasting CAH who remain on treatment usually do not have
further salt-wasting adrenal crises or other associated health problems.
Pregnant women with classic salt-wasting CAH should be followed carefully by
an endocrinologist during pregnancy. Medications may need to be increased
during pregnancy to prevent problems with fetal growth.

What causes the 21-hydroxylase enzyme to be absent or not
working correctly?

Genes tell the body to make various enzymes. People with CAH have a pair of
genes that do not work correctly. Because of the changes in this pair of genes,
the 21-OH enzyme either does not work properly or is not made at all.
How is CAH inherited?

CAH is inherited in an autosomal recessive manner. It affects both boys and girls
equally.
Everyone has a pair of genes that make the 21-OH enzyme. In children with
CAH, neither of these genes works correctly. These children inherit one non-
working gene for the condition from each parent.
Parents of children with CAH rarely have the condition themselves. Instead, each
parent has a single non-working gene for CAH. They are called carriers. Carriers
do not have CAH because the other gene of this pair is working correctly.
When both parents are carriers, there is a 25% chance in each pregnancy for the
child to have CAH. There is a 50% chance for the child to be a carrier, just like
the parents. And, there is a 25% chance for the child to have two working genes.
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Genetic counseling is available to families who have children with CAH. Genetic
counselors can answer your questions about how CAH is inherited, choices
during future pregnancies, and how to test other family members. Ask your
doctor about a referral to a genetic counselor.

Is genetic testing available?
Genetic testing for CAH can be done on a blood sample. Genetic testing, also
called DNA testing, looks for changes in the pair of genes that causes CAH.
DNA testing is not always necessary to diagnose your child but it can sometimes
be helpful in determining whether your child has classic or nonclassic CAH. It can
also be helpful for carrier or prenatal testing, discussed below.

What other testing is available?

CAH is confirmed by testing the level of 17-OHP and other substances in the
blood. Other blood and urine tests may also be necessary to determine whether
you child has the salt-wasting form of CAH. Talk to your doctor or your genetic
counselor if you have questions about testing for CAH.
Nonclassic CAH is confirmed through testing a blood sample for the levels of 17-
OHP and other adrenal hormones.
Congenital Adrenal Hyperplasia
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Can you test during pregnancy?
If both gene changes have been found in your child with CAH, DNA testing can
be done during future pregnancies. The sample needed for this test is obtained
by either CVS or amniocentesis.

Parents may choose to have testing during pregnancy or wait until birth to have
the baby tested. A genetic counselor can talk to you about your choices and
answer questions about prenatal testing or testing your baby after birth.
Treatment
pregnancy
If you have had a child with CAH and become pregnant again, ask your doctor
whether prenatal treatment would be helpful. Female fetuses with CAH are
sometimes treated with a medication taken by the mother during pregnancy.
This medication, called dexamethasone, may prevent some of the genital
changes caused by CAH, although some doctors do not recommend this
treatment because of other potential risks to the fetus.

Can other members of the family have CAH or be carriers?
Having

If they are healthy and developing normally, older brothers and sisters of a baby with classic CAH are unlikely to have CAH. Talk to your doctor or genetic counselor if you have questions about your other children. CAH carriers
Brothers and sisters who do not have CAH still have a 2/3rds chance to be carriers like their parents. Except in special cases, carrier testing should only be done in people over 18 years of age. Each of the parents’ brothers and sisters has a 50% chance to be a carrier. It is important for other family members to be told that they could be carriers. There is a small chance they are also at risk to have children with CAH. A few states do not offer newborn screening for CAH. However, expanded newborn screening through private labs is available for babies born in states that do not screen for this condition. To learn whether your state screens for CAH, see http://genes-r-us.uthscsa.edu/. When both parents are carriers, newborn screening results are not sufficient to rule out the condition in a newborn baby. In this case, special diagnostic testing should be done at birth in addition to newborn screening. Congenital Adrenal Hyperplasia
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Can other family members be tested?
Diagnostic

If there is concern about whether they have the condition, your other children can be tested. Talk to your doctor or genetic counselor if you have questions about testing for CAH. If both gene changes have been found in your child, other family members can
have DNA testing to see if they are carriers.

How many people have CAH?
About one in every 15,000 babies in the United States is born with classic CAH.

Does CAH happen more frequently in a certain ethnic group?
CAH occurs in people of all ethnic groups around the world. It is more common in
the Yupik Eskimos; about 1 in 300 babies in this population is born with CAH. It
is less common in African-American and Asian people.
Nonclassic CAH may occur in up to 1 in every 100 people. It appears to happen
more often in people of Ashkenazi Jewish, Hispanic, Slavic and Italian
background.
Does CAH go by any other names?
CAH is sometimes also called:
The nonclassic form of CAH is sometimes also called: Some less common causes of CAH not discussed in this fact sheet are: • Steroidogenic acute regulatory protein deficiency (STAR) • Cytochrome P450 oxidoreductase deficiency Congenital Adrenal Hyperplasia
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Where can I find more information?
Being told your child has CAH can be a very stressful experience for the whole
family. Your health care practitioners can help you deal with some of the
feelings, concerns and questions that naturally come up when a baby is
diagnosed with CAH. There are also national support groups and other
organizations that provide written information about CAH. Many of these groups
have volunteers who can talk with you by phone or by email about your feelings
and concerns and may be able to connect you with other parents who have
children with CAH. Some of these support networks and organizations are listed
below.


CARES (Congenital Adrenal Hyperplasia Research, Education and Support)
Foundation, Inc.
http://every1cares.org
National Adrenal Diseases Foundation
http://wwwnadf.us/diseases/cah.htm
MAGIC Foundation (Major Aspects of Growth in Children)
www.magicfoundation.org
Congenital Adrenal Hyperplasia Education and Support Network
http://www.congenitaladrenalhyperplasia.org/
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: A guide for
patients and their families
http://www.hopkinschildrens.org/specialties/categorypages/cah/index.html
National Library of Medicine Genetics Home Reference (CAH)
http://ghr.nlm.nih.gov/condition=21hydroxylasedeficiency
Genetic Alliance
http://www.geneticalliance.org
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Source: http://www.newbornscreening.info/Parents/drafts/CAH.pdf

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