Disorder Name: This means ‘present at or before birth.’ It usually refers to health conditions or birth defects that are present in a baby at or prior to birth. Adrenal This is an abnormal increase in the number of cells in a particular organ or tissue. It causes the organ or tissue to become larger than normal.
- 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 deficiency inherited?
- Is genetic testing available?
- What other testing is available?
- Can you test during a future 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 types of CAH. This fact sheet describes 21-hydroxylase deficiency (This is the most common type of inherited enzyme deficiency causing congenital adrenal hyperplasia (CAH). Children who are completely missing this enzyme, or have very little working enzyme, usually have the ‘salt-wasting’ form of classic CAH. Children who have a reduced level of 21-OH but still make some of this enzyme usually have the ‘simple-virilizing’ form of classic CAH.) which accounts for about 95% of all cases of CAH. The other types of CAH are not covered in this fact sheet but are listed at the end.
WHAT IS CAH?
CAH stands for “congenital adrenal hyperplasia.” CAH is an Acquiring a trait from one’s parents. Most traits, such as eye color or hair color, are inherited from a parent through genes. condition that affects the The adrenals are a pair of glands near the kidneys that make three types of hormones important in helping the body function normally. The main hormones made in the adrenal glands are cortisol, aldosterone and sex-hormones such as estrogen, progesterone, and male-like androgens (including testosterone). When the adrenal glands make more or less of one or more of these hormone, health problems occur. and causes 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 Hormones include many different types of chemicals that act as messengers around the body. Hormones are made by specific endocrine glands and are secreted into the blood when needed by other parts of the body. Hormones travel to other organs and tissues in the body to signal them to do something. For example, insulin is a hormone that signals muscle and fat cells to remove glucose from the blood and enter the cells. necessary for healthy body function. Hyperplasia means ‘overly large.’ In people with CAH, the adrenal glands cannot make enough of a hormone called This is the hormone made in the adrenal glands that helps keep the amount of glucose (sugar) in the blood at a normal level. It also helps protect the body from chronic stress by reducing inflammation and immune system reactions.. 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, This is a hormone made in the adrenal glands. It helps the body keep a normal amount of salt and water in the blood. This keeps the blood pressure at a normal level. High levels of aldosterone cause too much salt and water to be kept in the blood and causes high blood pressure. Low levels of aldosterone cause the kidney to remove too much salt and water from the blood and excrete it in the urine. This causes dehydration and low blood pressure. If the blood pressure drops too low, it can cause adrenal crisis and lead to a coma and possibly death., and This is a group of sex hormones that help create male sex characteristics and masculine traits. Androgens help with normal development of the penis and testicles in male fetuses. At puberty, androgen levels go up and cause secondary male sex characteristics such as facial hair, pubic and underarm hair, growth of the penis, sperm formation, muscle development and growth in height. Girls make androgens, too, but in much smaller amounts than boys.. 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 This is an enzyme made by the body. It helps make cortisol and aldosterone. The enzyme is found in the adrenal glands and is essential in making the amounts of cortisol and aldosterone needed by the body. 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 This is a type of sugar made from the carbohydrates in food. Glucose is found in the blood. It is the main source of energy for the body and brain., the sugar used for energy by the body’s The smallest living unit. Cells make up all organs and tissues in multi-cellular organisms, like humans. They can also live independently, as in bacteria and other microorganisms. At a minimum, a cell is surrounded by a membrane, contains DNA at some stage in its life, and is able to replicate itself into two equal parts., 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 the 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 type 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.
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 This is a term use to describe the external sexual organs in both males and females. Male genitals include the penis and scrotum; female genitals include the vagina, clitoris and labia.. 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 types of CAH which are described below.
Most babies found to have CAH during A screening test that looks for different disorders using a small sample of blood taken from a newborn’s heel. A positive or abnormal newborn screening result means that there are slight differences that were found in the baby’s blood, and further testing is needed to figure out if the baby has a metabolic disorder. 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.
A small number of children are found through newborn The process of testing for disease in a person who does not show signs of having the disease (nonsymptomatic or asymptomatic person). The goal of screening is to catch the disease in its early stages. to have milder or ‘nonclassic CAH’ which often causes fewer health problems. The symptoms of nonclassic CAH are quite variable from person to person.
Classic CAH – Salt-wasting type
About 75% of babies with classic CAH have the salt-wasting type. 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 occurs when a person loses more water than they take in. Symptoms of dehydration are vague and include thirst, lightheadedness and diarrhea. Extreme dehydration requires hospitalization. In people with sickle cell disease, dehydration can trigger a crisis. Dehydration can be prevented by drinking plenty of water, especially when the individual is ill, in hot temperatures or participating in physical activity. 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:
- Poor feeding
- Listlessness and drowsiness
- Weight loss
- Low blood pressure
- Low blood salt (low blood sodium level)
- Too much acid in the blood, called This happens when acidic substances build up in the blood. It can cause rapid breathing, confusion, and extreme sleepiness. If not treated, it may lead to shock, coma or death.
If not treated, severe dehydration leads to Also called cardiovascular shock. This is a situation in which the brain is not receiving enough blood. Without proper bloodflow, the brain cells don't get enough oxygen and begin to shut down. The symptoms of shock include: confusion, irritability, rapid heart rate, and, if not treated, coma., 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 This is a life-threatening state in which the body is not making enough cortisol. Babies with classic CAH may have frequent adrenal crises if they are not treated. They are also at risk for adrenal crises during illness or times of stress if their medication is not increased. Symptoms of adrenal crisis include: dizziness, paleness and sweating (if blood sugar is low), abdominal pain, vomiting, low blood pressure, dehydration, confusion, rapid heart beat, and, if not treated, coma and possibly death.. The signs of an adrenal crisis include:
- Rapid heart rate
- This is a sleep-like condition from which a person cannot be awakened. People in a coma are unconscious. A coma can be caused by many things. Two causes are untreated low blood sugar (hypoglycemia) and a metabolic crisis.
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.
Classic CAH – Simple virilizing type
About 25% of babies with CAH have the simple virilizing type. 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 This is a small organ located under a fold of skin at the front of the labia in females. It is made of a small amount of erectile tissue that allows sexual pleasure during stimulation.. 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 This is the loose pouch of thin wrinkled skin that holds the testicles in males. It is located just below the penis.. Some baby girls have fewer genital changes than others. 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:
- Deep, husky voice
- Excess hair on the face and body
- Lack of menstrual periods or very light or irregular periods
- Early puberty changes such as hair in the armpits and pubic area
- Severe acne
- Male-pattern baldness (loss of hair near the temples)
Boys who are not treated may have some of the following traits:
- Muscle growth at an early age
- Pubic hair and underarm hair during childhood
- Enlargement of the penis during childhood
- Early deepening of the voice
- Early beard
- Smaller than normal testicles
- Severe acne
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 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 at risk for adrenal crises, though typically less severe than seen in children with the salt-wasting type. Acute 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 health problems.
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 type 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 This is the chemical that cortisol is made from. Children and adults with congenital adrenal hyperplasia (CAH) have much higher levels of 17-OHP in their blood because they cannot turn it into cortisol. Detecting increased amounts of 17-OHP in the blood is one of the tests that confirm the diagnosis of CAH., a chemical used to make cortisol, in their blood. They also may 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
- Severe acne
- Early puberty with development of pubic hair, underarm hair, and body odor during childhood
- Excess hair on the face and other parts of the body
- Male-pattern baldness (hair loss near the temples)
Girls and women may have:
- Male-like changes in physical appearance and behavior
- Irregular menstrual periods or early-onset of periods
- This is a condition that occurs in women who make too much of the androgen (male-like) hormones. It occurs in about 5 to 10% of all women. Some of the features of PCOS include: multiple cysts on the ovaries, excess body hair, severe acne, abdominal obesity, abnormal or lack of periods, and infertility. Women with PCOS are also at increased risk for type 2 diabetes.
Boys may have:
- Early beard growth
- Enlarged penis
- Small testicles
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.
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 types:
This is an artificial steroid medication similar to cortisol. It is used to treat children with congenital adrenal hyperplasia (CAH). It replaces the cortisol their own bodies are not making. medication
The main treatment is to replace the amount of cortisol not being made by the adrenal glands. This is the synthetic version of cortisol. It can be taken in pill form or by injection. It is a medication needed by people with CAH throughout life. It is also called ‘cortisone.’, 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, pubertal development, 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 This is a condition that occurs when your body is exposed to high levels of the hormone cortisol for a prolonged period of time. Signs of Cushing syndrome include: red or purple stretch marks on the skin, rounded face, fatty hump on the back, high blood pressure and bone loss. Most people with Cushing syndrome develop the symptoms from taking too much cortisone medication. The symptoms go away once the medication dosage is corrected., so the dose must be carefully balanced to your child’s height, weight, and activity level. Signs of Cushing A group of symptoms and clinical findings that, when found together, make up a particular condition or disease. include: stretch marks on the skin, rounded face, weight gain, high blood pressure, and bone loss.
In addition, your doctor will give you instructions for increasing the dose of hydrocortisone during an acute illness. If you have questions about dosing, call your doctor. 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 requires surgery. 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 These are the two pair of skin folds that surround the vagina in females. The outer pair of folds is called the labia majora. The inner pair of folds is called the labia minora. 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 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 This is an estimate of the age, or degree of maturity, of a child’s bones. It is done by taking an X-ray of the wrists and hands and comparing the bone’s development to the average for the child’s chronological age. The test can tell a doctor a child’s remaining growth potential and whether or not the growth plates are closing too early.. This allows your doctor to tell whether your child is growing at too rapid a rate. It also shows whether the The areas at the end of the long bones of the body that stay open during childhood to allow further growth. The cells of the growth plate divide when stimulated by growth hormone. After the growth plates close at the end of puberty, the bones cannot grow any longer. A person whose growth plates have closed has reached his or her final adult height. 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. 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 type
Children with salt-wasting CAH need to take an additional medication called This is a salt-maintaining medication used by people with salt-wasting CAH. It is taken in pill form and can help prevent adrenal crises in babies and children with salt-wasting CAH.. 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. Most 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:
- Severe acne
- Excess body hair
- Irregular menstrual periods
- Lumps in the testicles
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 how to make A molecule that helps chemical reactions take place. For example, enzymes in the stomach speed up the process of breaking down food. Each enzyme can participate in many chemical reactions without changing or being used up.. The CYP21A2 gene instructs the body to make the 21-OH enzyme. Everyone has two copies of the CYP21A2 gene. People with 21-OH have changes, also called A variant is a change or alteration in a person’s DNA sequence. Variants can happen in genes and affect how the gene functions. There are different types of variants – they can be non-problem causing (benign), disease-causing (pathogenic) or of unknown significance. The term variants is now used in place of the term mutation. in both copies of their CYP21A2 A segment of DNA that contains the instructions to make a specific protein (or part of a protein). Genes are contained on chromosomes. Chromosomes, and the genes on those chromosomes, are passed on from parent to child. Errors in the DNA that make up a gene are called variants and can lead to diseases. that cause them to not work correctly. Because of the variants in the CYP21A2 genes, the 21-OH enzyme either does not work properly or is not made at all.
HOW IS CAH DEFICIENCY INHERITED?
CAH is inherited in an autosomal recessive manner. It affects both boys and girls equally.
Everyone has two copies of the CYP21A2 gene that make the 21-OH enzyme. In children with CAH, neither copy of their CYP21A2 gene works correctly. These children inherit one non-working CYP21A2 gene from each parent.
Parents of children with CAH rarely have the condition themselves. Instead, each parent has a single non-working CYP21A2 gene. They are called A person who has one copy of a gene mutation for a particular autosomal recessive disorder (remember genes come in pairs). Carriers are not affected by the disorder. However, they can pass on the gene variant to their children. Children who inherit two such gene variants will be affected by the disorder. The term variants is now used in place of the term mutation.. Carriers do not have CAH because their other CYP21A2 gene 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.
Relating to (or due to) genes and heredity or the field of studying genes and heredity. 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 These are health care providers who have special training in genetic conditions. They help families understand genetic disorders and how they are passed down. Genetic counselors offer information and support to people who have genetic conditions in their families or are concerned that they may have a child with an inherited disorder..
IS GENETIC TESTING AVAILABLE?
Genetic testing for CAH can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes called variants, in the CYP21A2 genes that causes CAH.
Deoxyribonucleic acid (DNA) is a molecule found in the chromosomes that carries genetic information. DNA is composed of four units (called bases) that are designated A, T, G, and C. The sequence of the bases spell out instructions for making all of the proteins needed by an organism. A gene is a section of DNA that holds the instructions for a specific protein. A change in one or more of the DNA bases making up a gene is called a mutation. Some mutations change the protein instructions and can lead to particular health problems or disorders. Each parent passes half of their chromosomes, and thus half of their DNA instructions, onto their children. It is these instructions that cause certain traits, such as eye or hair color, to be inherited. 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 your child has the salt-wasting type 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.
CAN YOU TEST DURING A FUTURE 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 This is a test done during pregnancy. A needle is used to remove a small sample of fluid from the sac around the fetus. The sample can be used to test for certain genetic disorders in the fetus. Amniocentesis to test for genetic conditions is usually done between 13 and 20 weeks of pregnancy..
Parents may choose to have testing during pregnancy or wait until birth to have the baby tested. Parents may also choose to use assisted reproductive techniques to decrease the chance that their future children would have CAH. A genetic counselor can talk to you about your choices and answer questions about prenatal testing or testing your baby after birth.
Treatment during 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 This is a synthetic type of steroid hormone similar to cortisol but more potent. One of its uses is for prenatal treatment of congenital adrenal hyperplasia in female fetuses. It may be given to a mother during pregnancy if her fetus is female and affected with congenital adrenal hyperplasia (CAH). It may reduce some of the physical changes to the genitals that occur with CAH, but may have other risks; thus, it is important to discuss potential treatment with this drug with your physician., 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?
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.
Brothers and sisters who do not have CAH still have a chance to be carriers like their parents. Except in special cases, carrier testing should only be done in people over 18 years of age.
If you are a parent of a child with CAH, your brothers and sisters have 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.
All states offer newborn screening for CAH. However, 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
CAN OTHER FAMILY MEMBERS BE TESTED?
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 OFTEN 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:
- 21-hydroxylase deficiency
- 21-OH deficiency
- Adrenogenital syndrome (AG syndrome)
- C-21-hydroxylase deficiency
- Congenital adrenocortical hyperplasia
- Salt-losing CAH
The nonclassic type of CAH is sometimes also called:
- Attenuated CAH
- Late-Onset CAH
Some less common causes of CAH not discussed in this fact sheet are:
- Steroidogenic acute regulatory A molecule that makes up many parts of every cell in the body. Examples of proteins include hormones, enzymes, hair, and antibodies. Proteins are made up of 20 different types of individual units called amino acids. It is the order of these amino acids in a protein that determines what form and function a protein has. Each gene holds the instructions for making a single protein. deficiency (STAR)
- 3-beta-hydroxysteroid dehydrogenase deficiency (3B-HSD)
- 17-alpha-hydroxylase deficiency
- 11-beta-hydroxylase deficiency
- Cytochrome P450 oxidoreductase deficiency
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.
The CAH Support Group
Congenital Adrenal Hyperplasia Education and Support Network
|HI and OR endocrine specialists
|December 12, 2012
May 7, 2020
March 16, 2023
|March 16, 2023
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