What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) is a group of hereditary disorders that affect the adrenal glands. The adrenal glands are a couple of walnut-sized organs which is located above your kidneys produced the hormones cortisol and aldosterone. The adrenal glands have function to produce hormones that help regulate metabolism, the immune system, blood pressure and other essential functions.
A person who have CAH don’t own full of the enzymes. CAH affects the production of one or more of three steroid hormones: cortisol, which regulates your body’s response to illness or stress; mineralocorticoids, such as aldosterone, which regulate sodium and potassium levels; or androgens, such as testosterone, which are sex hormones. CAH is commonly caused by lacking of cortisol and overproduction of androgen.
There are two forms of this condition. Non-classic is the milder and more common form of CAH. The classic form, which is more severe, can be detected in newborn screening programs. Some forms of CAH can cause problems with normal growth and development in children and even be life-threatening.
Despite there are not any cure for CAH, with proper treatment, most people with congenital adrenal hyperplasia can lead normal lives.
How common is congenital adrenal hyperplasia?
This health condition is extremely common. Because all forms of congenital adrenal hyperplasia are autosomal recessive disorders, both sexes are affected with equal frequency. Please discuss with your doctor for further information.
What are the symptoms of congenital adrenal hyperplasia?
Signs and symptoms of congenital adrenal hyperplasia is varied and depend on which gene is defective and the level of enzyme deficiency. There are two major types of congenital adrenal hyperplasia:
- Classic CAH. This more-severe form of the disease is usually detected in infancy.
- Nonclassic CAH. This milder and more common form may not become evident until childhood or early adulthood.
Infant girls with classical CAH typically have a larger clitoris. Some infant boys have an enlarged penis. Other symptoms in babies include:
- Weight loss
- Poor weight gain
- Children with classical CAH often go through puberty earlier than normal and also grow faster than other kids but end up being shorter than others in adulthood.
- Women with this type of CAH usually have irregular menstrual cycles. Both women and men may experience infertility.
Nonclassical or Late-Onset CAH
Occasionally, people with this type of CAH don’t experience any symptoms at all.
Girls and women with late-onset CAH may have:
- Irregular periods or a lack of menstruation,
- Increased facial hair growth
- Deep voice
- Some men and women with this type of CAH start puberty early and grow rapidly when they’re young. As with classical CAH, they are usually shorter than average when fully grown.
Other signs and symptoms of nonclassical CAH in men and women include:
- Low bone density
- Severe acne
- Elevated cholesterol
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
Classic CAH is usually detected at birth through required newborn screening or when female babies show ambiguous genitalia. CAH may also be identified when male or female babies show signs of severe illness due to low levels of cortisol, aldosterone or both.
In nonclassic CAH, you may notice signs and symptoms of early puberty in your toddler or child. In this case, or if you have concerns about your child’s growth or development, make an appointment with your child’s pediatrician.
If you’re pregnant and may be at risk of CAH because of your own medical history or your ethnicity, ask your doctor about genetic counseling.
What causes congenital adrenal hyperplasia?
In 95 percent of cases, the enzyme lacking in congenital adrenal hyperplasia is 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency.
CAH is given in an inheritance pattern called autosomal recessive. Children who have the condition have two parents who either have CAH themselves or who are both carriers of the genetic mutation that causes the condition.
What increases my risk for congenital adrenal hyperplasia?
Factors that increase the risk of having congenital adrenal hyperplasia include:
- Parents who both have CAH or are both carriers of the genetic defect for the disorder
- People in certain ethnic groups, particularly Ashkenazi Jews, but also Hispanics, Italians, Yugoslavians and Yupik Inuits
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is congenital adrenal hyperplasia diagnosed?
Tests to diagnose CAH in fetuses can be done when siblings have the disease or family members are known to carry the gene defect. One of these tests may be done:
- This procedure involves using a needle to withdraw a sample of amniotic fluid from the womb, and then examining the cells.
- Chorionic villus sampling. This test involves withdrawing cells from the placenta for examination.
Newborns, infants and children
All newborns need to be screened for classic CAH caused by genetic 21-hydroxylase deficiency during the first few days of life. This test does not identify nonclassic CAH. Diagnosis of CAH includes:
- Physical exam
- Blood and urine tests.
- Gene testing
- Testing to determine a child’s sex.
How is congenital adrenal hyperplasia treated?
Your doctor will likely refer your child to a specialist in childhood hormonal issues (pediatric endocrinologist) for treatment of congenital adrenal hyperplasia. The health care team may also include other specialists, such as urologists, psychologists and geneticists, as needed.
Treatment will depend on the type of CAH and the severity of symptoms and is aimed at reducing excess androgen production and replacing deficient hormones. People with nonclassical CAH may not require treatment or may need only small doses of corticosteroids.
Your child’s doctor may prescribe replacement hormone medication taken on a daily basis to restore normal levels of deficient hormones. Additional medications or higher doses may be needed during periods of illness or significant stress such as surgery.
Medications may include:
- Corticosteroids to replace cortisol ― this is the main treatment
- Mineralocorticoids to replace aldosterone to help retain salt and get rid of excess potassium
- Salt supplements to help retain salt
Monitoring the effectiveness of medication includes regularly scheduled:
- Physical exams. The doctor can check your child’s growth and development, including monitoring changes in height, weight, blood pressure and bone growth.
- Monitoring for side effects. The doctor can also monitor your child for side effects, such as the loss of bone mass and impaired growth, particularly if steroid-type replacement medication doses are high and used long term.
- Blood tests to check hormone levels. It’s critical to have regular blood tests that indicate whether medications need adjusting. Adequate cortisone replacement is needed to suppress androgens, allowing for normal height in growing children and minimizing masculine characteristics in females. However, too much cortisone may cause Cushing’s syndrome.
As adults, some men and women with nonclassic CAH are able to stop taking their replacement hormone medications. But others, particularly people with symptoms or with the classic form of CAH, may need to take replacement hormone medications indefinitely.
Possible reconstructive surgery for females
In some female infants with severe ambiguous genitalia as a result of classic CAH, reconstructive surgery to normalize the appearance and function of the genitals may be recommended.
This procedure may involve reducing the size of the clitoris and reconstructing the vaginal opening. The surgery is typically performed between 2 and 6 months of age. Females who have corrective genital surgery may need more cosmetic surgery later in life.
Some parents choose to wait for surgery until their child is old enough to understand the risks and choose his or her own gender assignment. However, performing corrective genital surgery when females are very young is technically easier than it is in later years.
Before making decisions about the best treatment approach for your child, talk with your doctor about these issues. Working together, you and your doctor can make informed choices that will help your child thrive.
Psychological support can be important to the emotional health and social adjustment of females with genital abnormalities.
When identified before birth, treatment for CAH can begin while the fetus is still in the womb. A synthetic corticosteroid that crosses the placenta to the infant can be taken by the mother during pregnancy. This may reduce the secretion of male hormones (androgens), allowing female genitals to develop normally.
This treatment is still considered experimental. There’s no clear evidence yet about the long-term safety of this drug. Because of the side effects and how the treatment might affect brain development, this remains a controversial treatment.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage congenital adrenal hyperplasia?
The following lifestyles and home remedies might help you cope with congenital adrenal hyperplasia:
There is no known way to prevent congenital adrenal hyperplasia. Your doctors may recommend genetic counseling if you’re thinking of starting a family and you’re at risk of having a child with CAH.
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Congenital Adrenal Hyperplasia http://emedicine.medscape.com/article/919218-overview#a2. Accessed April 7, 2017
Congenital adrenal hyperplasia http://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/manage/ptc-20309491. Accessed April 7, 2017
Congenital Adrenal Hyperplasia http://www.healthline.com/health/congenital-adrenal-hyperplasia#prenatal-screening7. Accessed April 7, 2017
Review Date: July 24, 2017 | Last Modified: September 12, 2019