Causes
In some cases, congenital adrenal hyperplasia can affect your fertility. If you were born with ambiguous genitalia, you may need psychological care. Reach out to your healthcare provider if you need any help after treatment. How can I lose weight with congenital adrenal hyperplasia? Certain medications used to treat CAH may cause weight gain.
Symptoms
Classic CAH affects as many as 1 in every 10,000 to 15,000 people living in the United States and Europe. Nonclassic CAH affects about 1 in every 100 to 200 people. Both classic and nonclassic CAH affect people worldwide. What are the symptoms of congenital adrenal hyperplasia? CAH can cause various symptoms depending on the type and your sex.
Prevention
Classic CAH is usually detected at birth through required newborn screening or when female babies have 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 children who have nonclassic CAH, signs and symptoms of early puberty may appear.
Complications
Testosterone levels are also lower in late-onset CAH. There are other types of CAH, but they are very rare. These include 11-beta-hydroxylase, 17-alpha-hydroxylase, and 3-beta-hydroxysteroid dehydrogenase deficiencies. Infant girls with classical CAH typically have a larger clitoris. Some infant boys have an enlarged penis.
Can congenital adrenal hyperplasia affect my fertility?
How common is congenital adrenal hyperplasia (CAH)?
How is congenital adrenal hyperplasia diagnosed?
What are the symptoms of late-onset congenital adrenal hyperplasia (CAH)?
What happens if you don't treat congenital adrenal hyperplasia?
Classic congenital adrenal hyperplasia (CAH) Classic CAH is the more serious form of the disease. It can cause adrenal complications such as shock and coma. If not found and treated early, it can be fatal. Diagnosis of classic CAH typically happens at birth.
What is associated with congenital adrenal hyperplasia?
The most common cause of CAH is the lack of the enzyme known as 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency. This enzyme is required by the body to make proper amounts of hormones.
Do carriers of CAH have symptoms?
People with a mutation in only one of the CAH-related genes do not have symptoms of CAH. But they're called CAH carriers because they can pass the CAH-causing gene to their children. The genetic pattern through which CAH passes from parents to children is called autosomal recessive.
Why do some females develop congenital adrenal hyperplasia?
Congenital adrenal hyperplasia is an inherited condition caused by mutations in genes that code for enzymes involved in making steroid hormones in the adrenal glands. The most common enzyme defect, 21-hydroxylase deficiency, leads to excess amounts of male hormones being produced by the adrenal glands.
Does CAH shorten life expectancy?
Deaths in patients with classic CAH in the context of an acute adrenal crisis (Addisonian crisis) are described in the literature. Mortality in CAH children is generally considered higher and assumed to be between 2 and 13% [17–19, 21].
Can people with CAH have kids?
Women with congenital adrenal hyperplasia (CAH) can suffer from impaired fertility rates as a result of increased androgen secretion or impaired sex steroid production. CAH patients have lower pregnancy rate compared to normal women. Only a few cases with successful pregnancy have been reported in the literature.
What is the most common type of congenital adrenal hyperplasia?
The most common form of CAH, 21 hydroxylase deficiency, affects approximately 1:10,000 to 1:15,000 people in the United States and Europe. Among the Yupik Eskimos, the occurrence of the salt-wasting form of this disorder may be as high as 1 in 282 individuals.
Is CAH an intersex?
Congenital Adrenal Hyperplasia (CAH) is the most prevalent cause of intersex among people with XX chromosomes.
Can kids with CAH play sports?
Children with CAH do not have any activity restrictions; they are able to attend school, play sports, and go on to live long, healthy, and productive lives.
What are the signs of adrenal gland problems in females?
Signs and symptoms of adrenal insufficiency may include:Fatigue.Body aches.Unexplained weight loss.Low blood pressure.Lightheadedness.Loss of body hair.Skin discoloration (hyperpigmentation)
Is CAH the same as Addison's disease?
Background. Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison's disease or congenital adrenal hyperplasia (CAH).
What is the most common type of congenital adrenal hyperplasia?
The most common form of CAH, 21 hydroxylase deficiency, affects approximately 1:10,000 to 1:15,000 people in the United States and Europe. Among the Yupik Eskimos, the occurrence of the salt-wasting form of this disorder may be as high as 1 in 282 individuals.
What causes hyperplasia in CAH?
What causes congenital adrenal hyperplasia (CAH)? CAH is caused by changes (mutations) in one of several genes. These changes lead to deficiencies in 21-hydroxylase or, less commonly, 11-hydroxylase. Both of these are chemicals called enzymes.
What is the pathophysiology of congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical steps of production of glucocorticoids, mineralocorticoids, or sex steroids from cholesterol by the adrenal glands.
How does congenital adrenal hyperplasia cause hypertension?
Deficiencies of steroid 11β-hydroxylase or 17α-hydroxylase are types of congenital adrenal hyperplasia, the autosomal recessive inability to synthesize cortisol. These two defects often cause hypertension because of overproduction of cortisol precursors that are, or are metabolized to, mineralocorticoid agonists.
What is the cause of adrenal hyperplasia?
The adrenal glands produce the hormones cortisol and aldosterone. CAH is caused by genetic defects that prevent these glands from producing these two hormones either entirely or at normal rates. Everyone has two of these glands, one on top of each kidney. Cortisol is sometimes called the stress hormone because it’s released when you’re under stress. It helps control blood sugar. Aldosterone helps the kidneys function and balance electrolytes.
Why is my adrenal gland making aldosterone?
This type is caused by a partial enzyme deficiency instead of the enzyme being completely absent. If you have this type of CAH, your adrenal glands can make aldosterone, but not enough cortisol. Testosterone levels are also lower in late-onset CAH.
Why is CAH missing?
With classical CAH this enzyme is missing, which means your adrenal glands can’t make these hormones. In addition, your body starts making too much of a male sex hormone called testosterone. This causes masculine characteristics to appear in girls and develop early in boys.
How to treat CAH?
The most common form of treatment for CAH is taking a replacement hormone medication on a daily basis. This helps bring your affected hormones back up to normal levels and lessens any symptoms.
What are the complications of CAH?
One possible complication of CAH is an adrenal crisis. This is a rare but serious condition, occur in small percentage of individuals who are treated with glucocorticosteroids. Management during illness or stress can be challenging and within hours can result in decreased blood pressure, shock, and death.
What are the symptoms of CAH?
Other signs and symptoms of nonclassical CAH in men and women include: low bone density. severe acne.
What happens if you have a classical CAH?
vomiting. dehydration. 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.
What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) is an inherited disorder of the adrenal glands that can affect both boys and girls.
What causes adrenal hyperplasia in children?
In children with CAH, the gene (21-hydroxylase) that makes the enzyme needed to produce cortisol and aldosterone is not working properly. In order for a child to be born with CAH, both parents must be carriers of the mutated gene and pass it on to their baby.
What is the adrenal and puberty center at Hop?
In the Adrenal and Puberty Center at CHOP, our team will work with your family to develop an individualized treatment plan to manage your child’s disease.
How are infants screened for adrenal hyperplasia?
All infants born in the United States are screened for congenital adrenal hyperplasia through a blood test.
What is the missing enzyme in CAH?
In close to 95 percent of cases, the missing enzyme is called 21-hydroxylase. CAH caused by this missing enzyme is called 21-hydroxylase deficiency.
How many children are born with CAH?
CAH caused by 21-hydroxylasse deficiency can affect both boys and girls equally. One in 10,000 to 18,000 children are born with classical CAH, while the nonclassical form is much more common.
What are the symptoms of a classical CAH?
Children with classical CAH may develop an “adrenal crisis” which produces symptoms including: Vomiting. Severe dehydration. Low blood pressure. Life-threatening shock. In classical CAH, the body also overproduces androgens, which can cause: Newborn girls may have atypical genitalia.
What is the rarest form of adrenal hyperplasia?
There are two major types of congenital adrenal hyperplasia: Classic CAH. This form is rarer and is usually detected in infancy. Approximately two-thirds of people who have classic CAH have what's known as the salt-losing form, while one-third have what's referred to as the simple-virilizing form. Nonclassic CAH.
What is the name of the disorder that affects the adrenal glands?
Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys. The adrenal glands produce important hormones, including: Cortisol, which regulates the body's response to illness or stress. Mineralocorticoids, such as aldosterone, ...
Why is CAH dangerous?
People who have classic CAH are at risk of adrenal crisis because they have very low levels of cortisol in the blood. This can cause diarrhea, vomiting, dehydration, low blood sugar levels and shock. Adrenal crisis is a life-threatening medical emergency that requires immediate treatment. Aldosterone also may be low, which leads to dehydration and low sodium and high potassium levels. The nonclassic form of CAH doesn't cause adrenal crisis.
What are the signs of CAH?
Signs and symptoms of classic CAH in children and adults include: Appearance of pubic hair at a very early age. Rapid growth during childhood, but shorter than average final height.
When does CAH become evident?
Nonclassic CAH. This form is milder and more common, and may not become evident until childhood or early adulthood.
Can you prevent congenital adrenal hyperplasia?
There is no known way to prevent congenital adrenal hyperplasia. If you're thinking of starting a family and you're at risk of having a child with CAH, your doctor may recommend that you see a genetic counselor.
Does CAH cause adrenal crisis?
Aldosterone also may be low, which leads to dehydration and low sodium and high potassium levels. The nonclassic form of CAH doesn't cause adrenal crisis. Males and females who have either classic or nonclassic CAH may also experience fertility problems.
What You Need to Know
Congenital adrenal hyperplasia (CAH) describes a group of hereditary (inherited) genetic disorders affecting your adrenal glands.
What causes congenital adrenal hyperplasia?
The most common cause of CAH is a genetic mutation (change) in the 21-hydroxylase enzyme. The adrenal gland needs 21-hydroxylase to make appropriate amounts of hormones. If someone doesn’t have enough 21-hydroxylase, called 21-hydroxylase deficiency, this can result in decreased cortisol production.
Congenital Adrenal Hyperplasia Symptoms
Signs and symptoms of CAH vary, depending on which gene is defective and the level of enzyme deficiency.
Congenital Adrenal Hypoplasia Treatment
The goal of CAH treatment is to reduce excessive androgens and replace deficient hormones. People with classic CAH need to take hormone replacement medications throughout their lives, while people with nonclassic CAH may or may not require treatment based on their symptoms and gender. Medications may include:
What Causes Nonclassical Congenital Adrenal Hyperplasia?
The most common cause of NCAH is 21-hydroxylase deficiency. This enzyme deficiency happens because of a genetic change you inherit. Without enough 21-hydroxylase, the compounds that make cortisol and the hormone aldosterone, build up in your adrenal glands. Your adrenals convert these to androgens, which leads to problems.
What Are Nonclassical Congenital Adrenal Hyperplasia Symptoms?
Lots of people don’t have any NCAH symptoms, or they are mild. Symptoms often look like other conditions, so it can be hard to diagnose. It is sometimes confused with polycystic ovary syndrome, or PCOS, where the ovaries make too many androgen hormones.
What Is the Treatment for Nonclassical Congenital Adrenal Hyperplasia?
Nonclassical congenital adrenal hyperplasia treatment usually isn’t necessary for most people, especially if you don’t have any symptoms. Your doctor might give you medication if you have symptoms like acne, period problems, extra facial hair, or hair loss. These treatments can include:
Overview
Epidemiology
Causes
Physical characteristics
Types
- Congenital adrenal hyperplasia (CAH) is a group of hereditary disorders that affect the adrenal glands. The adrenal glands produce the hormones cortisol and aldosterone. CAH is caused by genetic defects that prevent these glands from producing these two hormones either entirely or at normal rates. Everyone has two of these glands, one on top of eac...
Symptoms
- The defect that causes CAH is passed down from both parents to their child. According to the National Organization for Rare Diseases, CAH occurs in around one out of every 10,000-15,000 children.
Prognosis
- According to the National Adrenal Diseases Foundation, classical CAH accounts for around 95 percent of all CAH cases. It mainly occurs in infants and young children. The adrenal glands normally produce cortisol and aldosterone with the help of an enzyme known as 21-hydroxylase. With classical CAH this enzyme is missing, which means your adrenal glands cant make these h…
Treatment
- Although as a child CAH can make you taller than other children, as an adult you could be a little shorter than average.
Risks
- There are other types of CAH, but they are very rare. These include 11-beta-hydroxylase, 17-alpha-hydroxylase, and 3-beta-hydroxysteroid dehydrogenase deficiencies.
Overview
- Infant girls with classical CAH typically have a larger clitoris. Some infant boys have an enlarged penis. Other symptoms in babies include: Occasionally, people with this type of CAH dont experience any symptoms at all. Girls and women with late-onset CAH may have: Some men and women with this type of CAH start puberty early and grow rapidly when theyre young. As with cla…
Symptoms
- 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.
Causes
- The most common form of treatment for CAH is taking a replacement hormone medication on a daily basis. This helps bring your affected hormones back up to normal levels and lessens any symptoms. You might need more than one type of medication or a higher dose of your regular hormone replacement when youre sick or dealing with excess stress or illness. Both can affect y…
Risk Factors
- Girls between the ages of 2 to 6 months can have a surgery called feminizing genitoplasty in order to change the look and function of their genitals. This procedure might need to be repeated when theyre older. According to one study, women who had this procedure are more prone to feeling pain during intercourse or may experience a loss of clitoral sensation later in life.
Complications
- Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys. The adrenal glands produce important hormones, including: 1. Cortisol, which regulates the body's response to illness or stress 2. Mineralocorticoids, such as aldosterone, which regulate sodium...
Prevention
- Signs and symptoms of CAHvary, depending on which gene is affected and the level of enzyme deficiency. The imbalance of hormones the body needs to function may mean too little cortisol, too little aldosterone, excess androgens or a combination of these imbalances.