Congenital Adrenal Hyperplasia

Many, but not all, girls with classic congenital adrenal hyerplasia are referred for genital surgery. For those who do, some parents chose to have this done early in infancy. In some cases, due to urine reflux (back up) into the bladder or the kidneys, surgical repair needs to be done early in life. Other parents postpone surgery until their daughter is old enough to make the decision herself. To learn more about genital surgery in girls with congenital adrenal hyperplasia, visit the CARES Foundation .

If a child has congenital adrenal hyperplasia, all of his or her children will at least be carriers of congenital adrenal hyperplasia. If his or her partner is a carrier, they will have a 50% chance of having a baby with congenital adrenal hyperplasia, each time they conceive. The chance that a child will have a partner who is a carrier of congenital adrenal hyperplasia depends on their partner’s ethnic background, but it is probably around 1 in 100. Their chance of having a child who also has congenital adrenal hyperplasia is likely around 1 in 200. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

In general, children with a chronic illness since birth or early childhood are at a higher than average risk for developmental or learning problems. That may also be true for people with congenital adrenal hyperplasia, but research studies have not always agreed. Some researchers believe that excess androgens (male sex hormones) and excess corticosteroids (medications taken to replace cortisol) increase the risk for learning problem, attention deficit disorder, problems with speech , and problems with memory. Other researchers say that the risk is no higher than in the average person. More research needs to be done on this subject.

Males with congenital adrenal hyperplasia (CAH) have a higher than average risk of developing tumors in their testes. These tumors can cause infertility. Men with CAH should speak with their doctors about monitoring and testing for tumors as well as a referral to a reproductive endocrinologist to discuss reproductive options.

In females with congenital adrenal hyperplasia, excess androgens (male sex hormones) can cause women with congenital adrenal hyperplasia to have irregular or no periods and infertility. If a women gets good treatment and is dedicated to taking her medications as prescribed, periods are usually normal and pregnancy is possible. The chance of actually becoming pregnant, however, is less than it is for the average women. There are many reasons why fertility might be a problem including: increased androgen production, a smaller than average vaginal canal, lack of ovulation (no eggs released), elevations of other hormones, and problems with the baby implanting in the womb. If you have congenital adrenal hyperplasia and want to get pregnant, speak to your gynecologist about your condition.

Brothers and sisters of a person with congenital adrenal hyperplasia should be tested either before birth (through prenatal testing) or in the newborn period. Brothers and sisters who have already been born can be tested if symptoms arise. Brothers and sisters who have no symptoms can be tested to see if they are carriers when they are adults. Aunts and uncles may also want to be tested to see if they are carriers. The partner of a person with congenital adrenal hyperplasia may want to have genetic testing to see if he or she is a carrier of congenital adrenal hyperplasia. If both parents are a carrier, all children born to the couple should be tested either before or immediately after birth. If you are interested in carrier testing, a genetic counselor in your area can help you get testing. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

The CARES Foundation can help you with support groups that fit your needs. They also have a closed Facebook group that can help you speak with other people who have congenital adrenal hyperplasia or who have children with congenital adrenal hyperplasia. Visit the CARES Foundation for more information. In addition, the Climb (Children Living with Inherited MetaBolic Diseases) has a sub group that focuses on congenital adrenal hyperplasia. Finally, talking to a doctor who treats patients with congenital adrenal hyperplasia may know of a support group or other families in an area.

Babies, children, and adults with congenital adrenal hyperplasia should have a team of doctors including specialists in pediatric endocrinology, uro-gynecologic surgery (for girls), psychology and genetics. You can use the CARES Foundation’s referral service to find doctors in your area that are knowledgeable about congenital adrenal hyperplasia. Your doctor can also help your locate specialists in your area for congenital adrenal hyperplasia.

If congenital adrenal hyperplasia is found, blood tests need to be done to test for salt wasting and to distinguish the classic form from the non-classic form. If a girl has ambiguous genitalia, a careful physical exam by a doctor and a vaginogram is needed to look at internal sex organs. A bone study to look at bone age and a blood test to find out the amount androgens (male sex hormones) being made by the body is also an important step. A pediatric endocrinologist as well as other specialists as needed are important to involve early in care. The person should be evaluated by a medical geneticist.

The usual abbreviation for congenital adrenal hyperplasia is CAH. When reading about CAH, be certain that you are reading about the correct form.

Non-classical congenital adrenal hyperplasia typically is not life-threatening and generally has milder symptoms. If a person with non-classic congenital adrenal hyperplasia has no symptoms, he or she may not need any treatment at all. If, however, they have early puberty, early maturation of bones, excess facial or body hair or other masculine features in a woman, or infertility, glucocorticoid treatment would be recommended.

In 2018, the Endocrine Society published updated guidelines to better assist doctors who are treating individuals with congenital adrenal hyperplasia.

The name "congenital adrenal hyperplasia" (CAH) refers to a group of hormone disorders caused by genetic changes or variants/mutations in key genes that affect the adrenal gland’s ability to work. The adrenal glands make cortisol (a hormone that regulates the body’s response to stress and illness), aldosterone (a hormone that regulates the body’s salt and water levels), and androgen (male sex hormones). When there is a genetic change or variant in one of several key genes, the adrenal glands can’t make one of the enzymes important to creating hormones. Patients and families work closely with endocrinology to develop a good care and treatment plan including finding the best balance of hormone supplements to take in order to live a normal life.

The most common form of CAH is called "classic CAH". Classic CAH occurs when there is a lack of the enzyme 21-hydroxylase. Missing 21-hydroxylase means the person’s body cannot convert cholesterol into cortisol. There are three types of 21-hydroxylase deficient congenital adrenal hyperplasia: classic salt-losing, classic simple-virilizing, and non-classical. They are put in these categories based on the health problems they cause and how severe the symptoms are.

In the classic form of CAH, girls with this type make too much male hormone before birth, and can have genitals that look more like boys than girls (virilized). Both boys and girls, with the salt-wasting type, can have a severe, life-threatening episode if not treated as a newborn. People with the non-classic type do not have symptoms until after birth, and generally have a much milder disease. Males and females may develop signs of puberty early and females may develop excess body hair, baldness, have irregular menstrual cycles and infertility.

Although more the 90% of CAH is caused by missing 21-hydroxylase, CAH can also be caused by genetic changes or variants in 6 other genes leading to too low levels of enzymes such as 17-alpha-hydroxylase, 11-beta-hydroxylase, 3-beta-hydroxysteroid dehydrogenase, steroidogenic acute respiratory (STAR) protein. 11-beta-hydroxylase is second most common cause of CAH causing about 5% of CAH.

To learn more about the different forms of CAH and which type is affecting an individuals, talk with that person’s endocrinologist or medical geneticist. There is also a good summary of the different types of CAH on the CARES foundation website and NORD CAH page.

The following content is sponsored by Spruce Biosciences

CAHmelia 204 is the name of the clinical research study that will test the safety and efficacy of tildacerfont, a new investigational non-steroidal oral medicine for the treatment of classic congenital adrenal hyperplasia (CAH). The goal of CAHmelia 204 is to evaluate the ability of tildacerfont to reduce a high daily steroid dose and reduce adverse outcomes associated with high steroid doses over 52 weeks.

You may be eligible to participate in CAHmelia 204 if you:

The following content is sponsored by Spruce Biosciences

CAHmelia 203 is a clinical research trial that is testing the safety and efficacy of a medication called tildacerfont, a new investigational non-steroidal oral medicine for the treatment of classic congenital adrenal hyperplasia (CAH). The goal of CAHmelia 203 is to evaluate the ability of tildacerfont to reduce abnormal androgens and improve clinical outcomes over 52 weeks.

You may be eligible to participate in CAHmelia 203 if you:

A person’s bone age is estimated by taking an X-ray of the hand and wrist. That X-ray is compared to what the X-ray should look like at different ages. If a child is 3, but the bones in her hand look like that of a 5-year-old, her bone age would be 5. A bone age X-ray is generally done every 6 to 12 months during childhood for patients with congenital adrenal hyperplasia. Talk to your doctor about how to get a bone age x-ray in your area.

Babies, children, and adults with 21-hydroxylase-deficient congenital adrenal hyperplasia should be watched to see how well their steroid replacement therapy is working, by looking at hormone levels, growth, weight gain, signs of puberty (children only), and signs of too much cortisol and/or androgen. They should also be watched to make sure the mineralocorticoid (regulates the amount of salt and water in the body) therapy is working by measuring blood pressure and certain hormone levels. Adults males should be watched for abnormalities in the testes, and both males and females may have fertility problems.

A change or mutation in the CYP21A2 gene causes the body to not make enough of the enzyme 21-hydroxylase. Different gene changes in CYP21A2 cause different forms of the condition. If there is not enough 21-hydroxylase, babies do not make enough cortisol (hormone that regulates the body during illness and stress) and mineralocorticoid (regulates the amount of salt and water in the body), and babies make too much androgen (male sex hormones).

Different gene changes cause the different types of congenital adrenal hyperplasia (CAH), but the most common type, 21-hydroxylase-deficient classic congenital adrenal hyperplasia, is caused by a gene change or mutation in the CYP21A2 gene. Other disease causing gene changes in different genes impacting cortisol biosynthesis may also lead to forms of CAH such as:

When the lab is testing a gene, they "read" each "letter" in the gene to see if there are any changes in the "letters" that the gene should have. Sometimes they find a change in the gene that causes no problems. Sometimes they find a gene change that causes the disease. Sometimes they find a gene change that they do not know if it causes "no problems" or if it causes the disease. This is called a variant of unknown significance, because the lab does not know what it does. By studying the family history or looking at what the gene change would do to the protein made by the gene, sometimes the lab can figure out the significance of the variant. You may wish to speak to a genetic counselor about a variant. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

For children with congenital adrenal hyperplasia, it is best to discuss medication changes with your medical team. During a mild illness in which the child is able to keep hydrated, steroid doses are increased. Children who are vomiting or have diarrhea and are unable to take their medicine orally should be given their medication through an IV (needle). If blood pressure, blood sugar, or electrolytes become abnormal, the child should be put in the hospital for careful monitoring and treatment. Talk to your doctor about signs to watch for and an action plan if your child becomes sick.

Dexamethasone has traditionally been offered to women who are at risk of having a child with congenital adrenal hyperplasia starting at around 6 weeks in pregnancy. Dexamethasone is used to reduce the chance of virilization (causing female genitalia to look more like male genitalia) in female babies. There are, however, side effects for the mother and the baby. Mothers who take dexamethasone have an increased risk for abnormal weight gain, swelling, mood changes, sleep problems, acne, and development of stretch marks. There also may be side effects to the baby. Researchers are still studying what happens to babies who are exposed to dexamethasone prenatally. There is some concern that babies exposed to dexamethasone throughout pregnancy may be at increased risk for learning difficulties. Some studies show a slight increase in speech and memory problems, and other studies show no differences in girls with congenital adrenal hyperplasia who were treated with dexamethasone prenatally and those with congenital adrenal hyperplasia who were not treated. Exposure early in pregnancy has been associated with an increased risk for cleft lip and palate and low birth weight in some studies, but not in all studies. More research is needed to study the effects of dexamethasone on the developing baby. Talk to your doctor about the current research in this area if you are at risk to have a child with congenital adrenal hyperplasia.
The 2018 Endocrine Society guidelines for clinical practice recommend dexamethasone therapy only be considered under the care of a center that is currently conducting research and follow-up on dexamethasone use during pregnancy.

There are many different types of congenital adrenal hyperplasia (CAH) that differ in symptoms and severity. Classic CAH caused by a 21-hydroxylase-deficiency presents in three different forms: classic salt-losing, classic simple-virilizing, and non-classical. All 3 forms of 21-hydroxylase-deficient CAH all produce too much androgen (male sex hormones) and not enough cortisol (regulates the body during times of stress and illness). Due to too much androgen, females with the classic type develop male-like genitalia or genitalia that are neither clearly female nor male (called ambiguous genitalia).

Classic salt-wasting CAH is characterized by the added inability to produce enough mineralocorticoids that regulate the amount of salt and water in the body leading to ‘salt wasting’. Infants with salt wasting have poor feeding, weight loss, poor growth, vomiting, dehydration, low blood pressure, low sodium (a part of salt) levels and high levels of potassium. This causes metabolic acidosis, a condition where the blood is too acidic. Metabolic acidosis can lead to adrenal crisis, which can result in shock or death. Because of this, early detection of congenital adrenal hyperplasia is very important. Hormonal treatment needs to begin shortly after birth for those with the classic type.

Individuals with non-classic CAH caused by 21-hydroxylase-deficiency or other enzyme deficiencies typically have milder symptoms and rarely require treatment immediately after birth. The main symptoms include premature body hair or acne development. The most common problem in girls are facial hair, irregular periods, and acne. Unlike the classic type, girls and boys with the non-classic type have normal genitals. Many children and adults with non-classic CAH may not even require any treatment.

Most children with the non classic type of 21-hydroxylase-deficient congenital adrenal hyperplasia do not have symptoms until they are older children. The main symptoms include premature body hair or acne development. The most common problems in girls are facial hair, irregular periods, and acne. Unlike the classic type, girls and boys with the non-classic type have normal genitals. Many children and adults with this type of 21-hydroxylase-deficient congenital adrenal hyperplasia may not even require any treatment.

Most babies and children with 21-hydroxylase-deficient congenital adrenal hyperplasia classic simple virilizing type have larger than average adrenal glands. The adrenal is a gland that sits right above the kidney. The adrenals make cortisol (a hormone that regulates the body’s response to stress and illness), aldosterone (a hormone that regulates the body’s salt and water levels), and androgen (male sex hormones). These enlarged adrenal glands make too much androgen (male sex hormone), and exposure to extra androgen causes abnormal development of the female genital area, making them look more like male genitalia. This is sometimes called ambiguous genitalia, because doctors cannot always tell if the baby is a boy or a girl. These girls do have normal internal reproductive organs. Boys with this disease look normal at birth. Boys and girls with 21-hydroxylase-deficient congenital adrenal hyperplasia classic simple virilizing type can have early puberty and fast body growth which leads to short stature in the adults. Children with this type do not have trouble regulating salt and water levels in their bodies. They do not have the life-threatening salt wasting crisis seen in babies with 21-hydroxylase-deficient congenital adrenal hyperplasia classic salt wasting type.

Most babies and children with 21-hydroxylase-deficient congenital adrenal hyperplasia classic salt wasting type have larger than average adrenal glands. The adrenal is a gland that sits right above the kidney. The adrenals make cortisol (a hormone that regulates the body’s response to stress and illness), aldosterone (a hormone that regulates the body’s salt and water levels), and androgen (male sex hormones). These enlarged adrenal glands make too much androgen (male sex hormone), and exposure to extra androgen causes abnormal development of the female genital area, making them look more like male genitalia. This is sometimes called ambiguous genitalia, because doctors can’t tell if the baby is a boy or a girl. These girls do have normal internal reproductive organs. Boys with this disease look normal at birth. Boys and girls with 21-hydroxylase-deficient congenital adrenal hyperplasia classic salt wasting type can have early puberty and fast body growth, which leads to short stature as an adult. These children have a lack of the hormone aldosterone. Aldosterone is a mineralocorticoid (regulates the amount of salt and water in the body). When babies have too little aldosterone, they cannot keep salt and water. If not treated, they get dehydrated, have less blood volume than normal, and have an abnormally low blood pressure. They become very ill and can pass away if not treated properly and very quickly during a crisis. If a child with congenital adrenal hyperplasia shows symptoms of a crisis, seek medical treatment immediately.

All people with congenital adrenal hyperplasia should carry a steroid emergency card or a Medical Alert Bracelet to let emergency personnel and medical providers know that hydrocortisone will be required quickly during times of illness and stress. Talk to your doctor about how to get one of these.

If two partners already have a child who has congenital adrenal hyperplasia, there is a 25% chance of having another child with congenital adrenal hyperplasia, each time they have a child together. There is also a 50% chance of being a carrier (and having no symptoms) and a 25% chance of not being a carrier and not having the disease. A genetic counselor can discuss the chances of having another child with congenital adrenal hyperplasia and available reproductive options. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

There is a specific protocol that happens any time an infant tests positive for any disorder through the newborn screening program. This protocol varies slightly depending on the state in which the infant lives. In general, doctors will order a blood test to see how much 17-OHP and how much adrenal androgen there is in the blood. High levels are generally enough to make a diagnosis. A special test called an ACTH (adrenocorticotropic hormone) stimulation test can also be done to confirm the diagnosis when the baby is over 3 days of age. If necessary or for family planning reasons, genetic (DNA) testing may also be done to confirm a diagnosis and to find the exact gene change or mutation causing congenital adrenal hyperplasia in the family. To learn more about newborn screening for congenital adrenal hyperplasia, visit Baby’s First Test.

There are different types of congenital adrenal hyperplasia that have different ages of onset and different symptoms. Thus, there is variable expression of the disease. This disease is fully penetrant, meaning everyone who has the disease will have symptoms, although they may be mild. For more information about congenital adrenal hyperplasia, visit the National Organization for Rare Disorders.

There is an option for girls with classic congenital adrenal hyperplasia to have reconstructive surgery, if they have ambiguous genitalia. Some parents request surgery in infancy, and other parents wait until their daughters are old enough to chose on their own to have surgery or not. This is generally a decision made with input from the parents and medical team. For advice on speaking to your daughter about surgery and her condition, visit the CARES Foundation.

In 2018, the Endocrine Society published updated guidelines to better assist doctors who are treating individuals with congenital adrenal hyperplasia.

Most babies with classic congenital adrenal hyperplasia are diagnosed through their state’s newborn screening program. A blood sample is taken from the newborn’s heel. Then, testing is done by looking at the levels of certain chemical/hormones in the blood. The goal is to diagnose newborns before they have salt-wasting crisis that can cause severe health problems or even death. If you have questions about whether your child was tested for congenital adrenal hyperplasia at birth, ask your doctor about the newborn screening results.

Testing for congenital adrenal hyperplasia is usually done by testing the blood for the levels of certain chemicals in the blood. Genetic (DNA) testing can also be done but is generally not necessary to confirm the diagnosis. However, genetic testing can be important to help other family members find out if they are carriers for congenital adrenal hyperplasia. If you have questions about testing, you may wish to see a genetic counselor in your area. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Exciting research into new therapies to treat congenital adrenal hyperplasia (CAH) is ongoing.
Studies are investigating the safety and effectiveness of treatments including:

There is treatment for congenital adrenal hyperplasia, but there is no cure. The treatment given to people with congenital adrenal hyperplasia depends on their type of congenital adrenal hyperplasia.

Treatment of classic congenital adrenal hyperplasia should be begun soon after birth or immediately at the time of diagnosis. The goal of therapy is to lower the amounts of extra androgen (male sex hormone) made and replace the hormones that are lacking. People with congenital adrenal hyperplasia are generally given glucocorticoids (to replace cortisol) and mineralocorticoids (to replace aldosterone). Salt supplements may also be given to babies, if needed. When a person is ill or under a great deal of stress, the adrenal glands become much more active. During those times, a person with congenital adrenal hyperplasia will need to be watched very carefully to see if additional medicines will be needed.

Females with virilizing congenital adrenal hyperplasia may undergo surgery to correct ambiguous genitalia (genitals that are not clearly male or female), although in a growing number of cases genital surgery is being delayed. This delay to allow the impacted child to decide whether or not they would like the surgery.

Research into new therapies for classic CAH is also underway and investigations range from extended release glucocorticoids to selective, non-peptide corticotropin-releasing factor (CRF) receptor 1 antagonists oral therapies to gene therapy.

To learn more about treatments for congenital adrenal hyperplasia, visit the National Organization for Rare Disorders.
In 2018, the Endocrine Society published updated guidelines to better assist doctors who are treating individuals with congenital adrenal hyperplasia.

For females with congenital adrenal hyperplasia, the decision to have surgery or not is based on many different factors. Most experts agree that corrective surgery should only be done in cases of severe virilization, when repair of the urinary tract (tubes that carry urine) may also be required. Surgeons are very cautious about doing surgery, because the surgery may interfere with sexual function and contentment later in life. The Endocrine Society recommends that this type of surgery should only be done by very experienced surgeons in a center that has a great deal of experience taking care of children with congenital adrenal hyperplasia. Surgery may be needed to open the vaginal canal. This surgery is not generally done until the late teens or early twenties, because routine treatment is often needed to keep the vaginal canal open.

Glucocorticosteroids (the medicines given to replace cortisol) can cause slow growth, especially if too much is given. Doctors have to be very careful to give exactly the right amount to stop the symptoms of congenital adrenal hyperplasia, but not enough to cause serious growth delays or other health problems. Researchers are trying to determine if growth hormone therapy or another combination of medications might help people with congenital adrenal hyperplasia reach a more average adult height.

The following tests should be done every three to four months in children. After growth is complete, testing may be done less often, and should be based on each person’s medical needs. Testing should be done to make sure the glucocorticosteroids are working by measuring the amount of 17-OHP, androstenedione, and testosterone (every three months during infancy and every three to six months in after that). Growth, weight gain, level of puberty, signs of too much cortisol and androgen, and bone age (every 6 to 12 months) should also be monitored. Doctors should also test to make sure the mineralocorticoid are working by checking blood pressure and early morning renin activity in the blood. Males should be checked for tumors on the testicles via ultrasound or MRI starting after puberty and done every 3 to 5 years. In adults, fertility, weight, cholesterol, blood pressure, and bone density should be checked periodically. Talk to your doctor about how often each of these tests should be done in your case.

Treatment must be individualized by doctors who have experience with this condition. Treatment can be tricky, because people with classic congenital adrenal hyperplasia can get very sick if they do not have enough of the replacement hormones, but they can also get sick if they have too much. These levels should be watched very carefully by specialists who are familiar with congenital adrenal hyperplasia, such as a pediatric endocrinologist. The Endocrine Society has established clinical practice guidelines for the treatment of congenital adrenal hyperplasia. You can find these guidelines, which you can share with your child’s doctor, here.

For patients with congenital adrenal hyperplasia, during periods of illness or stress their body will need more corticosteroids. Working with an endocrinologist to decide how much extra medication should be take and for how long is important.

Pregnant females who have congenital adrenal hyperplasia need to be watched very closely by an endocrinologist (hormone specialist) during pregnancy. The doses of glucocorticoids and mineralocorticoids will usually need to be higher during pregnancy, because androgens made in the adrenal gland increase normally during pregnancy. Speaking with an endocrinologist before becoming pregnant can help with a plan for exactly how to proceed during pregnancy.

One of the symptoms of all types of congenital adrenal hyperplasia in women is excess hair growth , due to the extra androgens (male sex hormones) in the body. Being committed to taking their medications may help with excess hair growth, but not always. An endocrinologist can discuss additional medicines that can help. To learn about treatment and removal options, you may also visit the CARES Foundation’s website.

Many men who have congenital adrenal hyperplasia have benign tumors on their testicles called testicular adrenal rest tumors (TART). Very high levels of glucocorticoids may shrink the tumors and allow the testicles to function normally. Some men will need surgery to remove the tumors. Men who become infertile due to the tumors can often not have biological children. Speak to an infertility specialist about reproductive options.

In relation to congenital adrenal hyperplasia, people with a chronic illness since birth or early childhood are at a higher than average risk for developmental or learning problems and for psychological problems. That may also be true for people with congenital adrenal hyperplasia, but not all research studies have found this to be true. Some researchers believe that excess androgens (male sex hormones) and excess corticosteroids (medications taken to replace cortisol) may increase the risk for learning problem, attention deficit disorder, problems with speech , and problems with memory. Some researchers say that people with congenital adrenal hyperplasia have a higher risk for psychological problems. Other researchers say that the risk is no higher than in the average person. More research needs to be done on this subject. For information on how to prepare your child’s school for their needs, visit the CARES Foundation.

Patients with congenital adrenal hyperplasia are commonly seen three to four times per year. However, this depends on the individual’s symptoms and medications. Patients with congenital adrenal hyperplasia who are doing well and taking all their medications as directed may need only a few visits a year, while people who are struggling may need more visits.

For congenital adrenal hyperplasia, babies can be diagnosed before birth with genetic testing through chorionic villus sampling or amniocentesis. Chorionic villus sampling is a procedure that is done between 11 and 14 weeks of pregnancy. A catheter is put through the cervix, and a small piece of the developing placenta is taken for genetic testing. It has been associated with up to a 1% risk of miscarriage. Amniocentesis is done at 15 weeks of pregnancy or later. It involves putting a needle in to the amniotic sac and removing fluid for genetic testing. It has been associated with up to a 1 in 300 risk of miscarriage, but newer studies suggest that the risk is likely much lower. To learn more about testing options, find a genetic counselor near you. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Congenital adrenal hyperplasia is inherited in an autosomal recessive manner. Our genes come in pairs. One of each pair comes from the mother and one of each pair comes from the father. In order to have an autosomal recessive disorder, both genes (the one from the mother and the one from the father) must have a gene change (mutation). If only one of the genes in a pair has a gene change, the person is called a carrier and will generally not have any symptoms of the disease. When both parents are carriers, each child they conceive will have a 25% chance of having congenital adrenal hyperplasia, a 50% chance of being a carrier, and a 25% chance of not having the disease or being a carrier. "Autosomal" means that the gene is not located on a sex chromosome, the ‘X’ or the ‘Y’. For more information about the inheritance of congenital adrenal hyperplasia, visit the National Organization for Rare Disorders.

Starting a support group is a challenging and rewarding experience. Support groups, such as the CARES Foundation can help people set up a local chapter in their area. Clinics that serve people with congenital adrenal hyperplasia often have social workers or genetic counselors that can help you start a support group. To locate a support group near you visit the [link url="CARES Foundation.

The CARES Foundation has an application that allows people to donate money to their organization. The CARES Foundation says that they "lead in the effort to improve the lives of the Congenital Adrenal Hyperplasia community and seeks to advance quality health care through support, advocacy, education and research." You can also donate to your local medical center that takes care of children and adults who have congenital adrenal hyperplasia.

Most babies with the classic form of congenital adrenal are diagnosed as newborns through their state’s newborn screening program. Older children and adults can be tested for congenital adrenal hyperplasia by testing the levels of 17-OHP in the blood. Testing should be done in the early morning or after ACTH stimulation. Genetic (DNA) testing for 21-hydroxylase-deficient congenital adrenal hyperplasia can also be done to confirm a diagnosis or for carrier testing. An endocrinologist or genetic professional can help you organize testing. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

The United States National Institutes of Heath website lists all the research studies funded by the National Institute of Health. You can also find research studies on many national support groups. The CARES Foundation lists clinical research studies that are funded by the NIH and those that are privately funded. You can visit the CARES Foundation at http://www.caresfoundation.org/clinical-trials-an-overview/ to learn about ongoing research.

The CARES Foundation has information on centers of excellence for treatment of congenital adrenal hyperplasia.

Around 1 in 10,000 to 1 in 15,000 babies are born with some form of congenital adrenal hyperplasia. It is most common among Yupik Eskimos.

Blood must be used for testing the levels of certain chemicals and hormones. The labs prefer to do genetic testing on blood, but they can use saliva or skin biopsy. If you are planning to have testing, it is important to have your doctor talk to the laboratory to make sure they are taking the correct type of sample for the testing you are having done.

Girls with congenital adrenal hyperplasia are exposed to extra androgens (male sex hormones) in the womb. This causes virilization (to make more like male genitalia) of the external genitals of these baby girls. Researchers have also found that little girls exposed to excess androgens before birth are more likely to want to play things that are traditionally thought of as things that boys like to play. The chance that a woman exposed to excess androgens prenatally would be bisexual or homosexual orientation is slightly increased. The majority of women with congenital adrenal hyperplasia, however, identify as female gender and are heterosexual.

People with congenital adrenal hyperplasia need more hormones when they are sick or stressed. It is very important that babies with congenital adrenal hyperplasia are treated and seen regularly by a doctor who is familiar with the disease and who knows what to do in times of illness and stress. Setting up an action plan ahead of time with a knowledgeable healthcare provider can guide what to do during illness or stress.

Testing is available for congenital adrenal hyperplasia even before pregnancy. This testing is called preimplantation genetic diagnosis, or PGD. PGD involves in vitro fertilization (IVF). The embryos that come from the IVF can be tested for congenital adrenal hyperplasia. Only the embryos found not to have congenital adrenal hyperplasia are used for a pregnancy. It is very important to have genetic testing for congenital adrenal hyperplasia before starting the IVF process. To learn more about PGD and reproductive options, find a genetic counselor and reproductive endocrinologist who does PGD with IVF. A referral to a reproductive endocrinologist in an area is often needed.

Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

There are other names for congenital adrenal hyperplasia. Some doctors call it adrenal hyperplasia congenital and some refer to the disorder as simply CAH. The most common type of congenital adrenal hyperplasia is caused by a lack of the enzyme 21-hydroxylase. That type of congenital adrenal hyperplasia is called congenital adrenal hyperplasia 21-hydroxylase deficiency, 21-hydroxylase-deficient congenital adrenal hyperplasia, virilizing adrenal hyperplasia, adrenal hyperplasia III, 21-hydroxylase deficiency, CYP21 deficiency, and congenital adrenal hyperplasia 1.

Females with certain types of congenital adrenal hyperplasia can appear to have male-like genitals (virilization) at birth because of too much androgen (a male hormone) being made during development. This is typically surgically corrected early in life.
Because boys with congenital adrenal hyperplasia do not have unusual genitals at birth, they may not be diagnosed with congenital adrenal hyperplasia until they are very ill.

In the United States a popular support group for people or families with congenital adrenal hyperplasia is the CARES foundation: http://www.caresfoundation.org/. Also, the Climb (Children Living with Inherited MetaBolic Diseases) has a sub group that focuses on congenital adrenal hyperplasia.

There are three different forms of 21-hydroxylase-deficient congenital adrenal hyperplasia. Two types are called classic 21-hydroxylase-deficient congenital adrenal hyperplasia. The classic types include salt-wasting and simple virilizing. The third type is the nonclassic type. The classic types generally have symptoms in infancy while the nonclassic type does not have symptoms until later in childhood. To learn more about the different forms of congenital adrenal hyperplasia, contact the National Organization for Rare Disorders (NORD).

Congenital adrenal hyperplasia can be caused by a lack of any of the enzymes that help to make cortisol. Over 90% of people with congenital adrenal hyperplasia have the 21-hydroxylase deficiency type. The additional rarer forms of congenital adrenal hyperplasia include: 11-Beta hydroxylase deficiency, steroidogenic acute regulatory protein deficiency,17a-hydroxylase deficiency, Cytochrome P450 oxidoreductase deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, and congenital lipoid adrenal hyperplasia deficiency.

11-beta hydroxylase deficiency is seen in around 5% of people with congenital adrenal hyperplasia, and the others are so rare that the exact percentage of people who have them is not known.