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What is Congenital Adrenal Hyperplasia (CAH)?
Congenital Adrenal Hyperplasia (CAH) is a set of inherited disorders that affect the adrenal glands. Adrenal glands are responsible for producing cortisol and aldosterone, which are both hormones with very important roles.
Cortisol is commonly referred to the stress hormone as it’s released when you are stressed. Cortisol also plays a large role in regulating blood sugar, which affects energy levels and overall bodily function.
What's in this Guide?
- What is Congenital Adrenal Hyperplasia (CAH)?
- Types of Congenital Adrenal Hyperplasia
- Causes of Congenital Adrenal Hyperplasia
- Signs and Symptoms of Congenital Adrenal Hyperplasia
- Risk Factors for Congenital Adrenal Hyperplasia
- Diagnosis of Congenital Adrenal Hyperplasia
- Genetic Testing for Congenital Adrenal Hyperplasia
- Treatment Options for Congenital Adrenal Hyperplasia
- Long-Term Implications of Congenital Adrenal Hyperplasia
- The Prognosis of Congenital Adrenal Hyperplasia
Disclaimer: Before You Read
It is important to know that your genes are not your destiny. There are various environmental and genetic factors working together to shape you. No matter your genetic makeup, maintain ideal blood pressure and glucose levels, avoid harmful alcohol intake, exercise regularly, get regular sleep. And for goodness sake, don't smoke.
Genetics is a quickly changing topic. Read More...
Aldosterone assists with balancing electrolytes in the body and kidney function.
For individuals with CAH, genetic defects interfere with the adrenal glands producing these two hormones. CAH may impair the glands ability to produce cortisol and aldosterone all together or partially.
One gland produces each hormone and every person has a set—one on top of each kidney. CAH most commonly presents itself in infants.
Diagnosing congenital adrenal hyperplasia in adults is much less common than in children and the condition does not go away as you age.
How common is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia in newborn babies does happen. CAH is considered a rare disease, affecting one out of every 10,000 to 15,000 children.
Types of Congenital Adrenal Hyperplasia
Statistics from the National Adrenal Diseases Foundation show that cases of classical CAH account for about 95 percent of the total number of CAH cases. It is the more severe kind of CAH and is usually diagnosed as an infant.
Classical CAH presents itself most often in infants and young kids. An enzyme called 21-hydroxylase helps the adrenal glands produce the hormones cortisol and aldosterone.
For those with classical CAH, the 21-hydroxylase enzyme is missing, which prevents the adrenal glands from producing either hormone.
Another issue cased by classical CAH is that the body begins overproducing testosterone, the male sex hormone. The excess testosterone causes masculine features to develop in females and develop earlier in males.
Some characteristics include having a deep voice, being tall for his/her age and early armpit or public hair growth. For those with classical CAH, even if you’re tall for your age as a child, you may be shorter for your age as an adult.
Nonclassical CAH, also called late onset congenital adrenal hyperplasia or borderline congenital adrenal hyperplasia in cases where symptoms are minimal, is a milder version of CAH that presents in older children and young adults.
Instead of the body completely lacking in the 21-hydroxylase enzyme, it is deficient.
In this case, a person’s adrenal glands cannot produce enough cortisol, but they can produce aldosterone.
Rare forms of CAH
There are additional types of CAH, but they are extremely rare. Other types of CAH are caused by the absence or deficiency of other enzymes—3-beta-hydroxysteroid dehydrogenase, 11-beta-hydroxylase and 17-alpha-hydroxylase.
Causes of Congenital Adrenal Hyperplasia
In the majority of cases—95 percent—21-hydroxylase is the enzyme missing or lacking in the body. There are other enzyme deficiencies that cause CAH, but they are extremely rare.
Is congenital adrenal hyperplasia inherited?
CAH is an inherited condition. It is passed along through an autosomal recessive inheritance pattern from parent to child.
To inherit the condition, a child must have two parents who both carry the CAH gene mutation or have the condition themselves. For example, if my son has congenital adrenal hyperplasia, my partner and myself both have or carry the condition.
If CAH runs in your family, you can be a carrier without having the disease yourself.
Signs and Symptoms of Congenital Adrenal Hyperplasia
Signs and symptoms of congenital adrenal hyperplasia vary from person to person due to variance in gene defects and how big the enzyme deficiency might be.
There are two types of classic CAH—salt-losing form and simple-virilizing form. Two-thirds of people with classic CAH have the salt-losing form and the remaining one-third are classified as having the simple-virilizing form.
Females with either form of classic CAH have genital ambiguity.
Someone with classic CAH may have:
- A deficiency in the production of cortisol in both forms of classic CAH. Most issues related to classic CAH are because of the cortisol deficiency. Cortisol plays an important part in regulating blood sugar, maintaining blood pressure and energy levels and protecting the body from stress.
- A deficiency in the production of aldosterone in the salt-losing form of classic CAH. This deficiency can lead to a lower sodium level (hence the name), higher levels of potassium and low blood pressure. The right balance of fluids in the body is usually controlled by sodium and potassium working together.
- An overproduction of testosterone, the male sex hormone. The affects of excess male sex hormone include early puberty and short height in males and abnormal genital development in the womb for females.
In infants, signs and symptoms of classic CAH include:
- Intense, and sometimes life threatening, illness due to the lack of cortisol, aldosterone or both hormones (called adrenal crisis)
- Females may have an enlarged clitoris or genital ambiguity (look more male than female) at birth. Males have normal appearing genitals at birth.
In children and adults, signs and symptoms of classic CAH include:
- Early onset of public hair growth
- Above average growth and height during childhood that slows to shorter than average height in puberty
Nonclassic CAH is less severed than classic CAH. Many times, not symptoms of nonclassic CAH are apparent at birth.
Routine infant blood tests do not detect nonclassic CAH. Rather, the presence of this type of CAH is not often noticed until late childhood or early adulthood. Cortisol may be the only hormone deficiency involved.
Teenage and adult females with nonclassic CAH have normal genitals at birth. Signs and symptoms later in life include:
- Absent or irregular periods
- Extreme acne
- Facial hair, excessive body hair, deep voice and other masculine characteristics
Teenage and adult males females with nonclassic CAH may experience signs and symptoms, including:
- Early growth of public hair
- Above average growth and height during childhood that slows to shorter than average height in puberty
Risk Factors for Congenital Adrenal Hyperplasia
The risk of having a child with CAH is increased by these factors:
- Both parents have CAH themselves, are both carriers, or one is a carrier and one has CAH
- Individuals from specific ethnic groups, especially, Ashkenazi, Hispanics, Italians, Jews, Yugoslavians and Yupik Inuits
Diagnosis of Congenital Adrenal Hyperplasia
Classic CAH is most commonly detected at birth either through routine newborn screening or when female babies are born with genital ambiguity.
Classic CAH in both male and female babies may also be detected when they experience extreme illness due to deficits in one of both of the hormones affected by CAH.
The false positives rate for the newborn screening that detects CAH can happen and a confirmation is usually done to ensure the proper diagnosis.
With nonclassic CAH, signs and symptoms present later. One of the first signs may be early puberty in your child or toddler.
Your child’s doctor can help you assess the track of your child’s growth and development. If something seems off, diagnostic tests may be used to identify the root cause.
Prenatal tests for CAH are available. If CAH runs in your family, you may consider consulting with a genetic counselor when you become pregnant to use one of the available screening tests to see if your future child may have CAH.
Prenatal treatment is available and has shown very promising results.
Genetic Testing for Congenital Adrenal Hyperplasia
Genetic testing is available to detect many of the gene mutations known to lead to CAH. If you know CAH runs in your family, testing of carriers is also an option.
Shortly after babies are born in the U.S. they are screened for a variety of things, including the enzyme deficiency that causes CAH. This screening is responsible for identifying 95 percent of classic CAH cases, but does not detect nonclassic CAH.
Nonclassic CAH is rarely suspected until later in life when symptoms begin to present themselves. Blood and urine tests, physical exams and/or genetic testing are used to diagnose nonclassic CAH.
Since bone growth can also be affected by CAH, an x-ray may be done to see how bones are developing.
Who Might Consider Genetic Testing for CAH?
Anyone thinking about having children who may be a carrier for CAH may consider genetic testing. If you or your partner have CAH in your family and are pregnant, you may consider genetic testing for early detection as prenatal treatments can help mitigate symptoms before a child is even born.
Treatment Options for Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia treatment for adults and children is very similar. The most common form of treatment is hormone replacement therapy through daily medication.
The medicine helps bring hormone levels up to average levels and reduce the symptoms of CAH. If you get sick or excessively stressed, you may need multiple or different doses of CAH medications to even out hormone levels.
Prenatal treatment for CAH is available. After a prenatal screening detects CAH a synthetic corticosteroid may be taken by the mother and moves through the placenta to the infant.
This may limit the production of male hormones and prevent the female genitalia from developing improperly. Females between 2 and 6 months old who have classic CAH may have surgery to alter the function and look of their genitalia.
This surgery is called feminizing genitoplasty. Some patients need repeat surgery when they get older.
One CAH natural treatment is trying a diet for congenital adrenal hyperplasia. Since salt is commonly lost as a result of CAH, a diet rich in salt can assist in balancing the body and keeping it at equilibrium.
Side-effects to the Treatment
The side effects of CAH medications are generally mild, especially in comparison to the imperative role they play in supporting the quality of life for people with CAH.
One study found that women who have had feminizing genitoplasty are more likely to experience pain during sexual intercourse and may lose clitoral sensation later in life.
Can CAH be cured?
CAH is a lifelong condition that cannot be cured, but it can be managed. You cannot grow out of CAH. Those with classic CAH will need treatment to manage the disease for the rest of their lives.
Nonclassic cases of CAH are not always symptomatic and treatment may not be needed. Children with symptoms should begin medication upon diagnosis.
As they age into adulthood, treatment may no longer be needed as symptoms can disappear.
Long-Term Implications of Congenital Adrenal Hyperplasia
Individuals with well-managed CAH conditions have a high quality of life and life expectancy similar to that of the general population.
While CAH doesn’t go away, and must be managed for a person’s entire life, its effect on normal day to day life is limited with proper care.
Congenital adrenal hyperplasia depression is quite common due not only to the hormonal imbalances cause by the condition, but the physical differences CAH may cause, especially in females.
Including psychological treatment alongside medication, surgery and other options is imperative in the CAH journey.
The Prognosis of Congenital Adrenal Hyperplasia
Is congenital adrenal hyperplasia life threatening? CAH can lead to complications that range from mild to life threatening.
However, today’s medical advancements lend themselves to a well-managed life with CAH for the majority of individuals who have the condition.
The CAH life expectancy is very similar to that of the general population when managed properly.
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