Medication
Treatments for CAH include medication and surgery as well as psychological support. 1, 2, 3, 4 Newborns with classic CAH should start treatment very soon after birth to reduce the effects of CAH. Classic CAH is treated with steroids that replace the low hormones. Infants and children usually take a form of cortisol called hydrocortisone.
Procedures
The CAH designation is designed to reduce the financial vulnerability of rural hospitals and improve access to healthcare by keeping essential services in rural communities. To accomplish this goal, CAHs receive certain benefits, such as cost-based reimbursement for Medicare services.
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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.
What are the treatments for CAH?
People with CAH cannot properly make cortisol and in some cases, are unable to produce aldosterone. They also produce too much of some androgens, such as testosterone and 17-hydroxyprogesterone. These hormone imbalances can lead to serious illness, atypical genitalia, early puberty, growth concerns and other problems.
What is a CAH and why is it important?
What is the role of surgery in the treatment of classic CAH?
What are the effects of CAH on hormones?
How does congenital adrenal hyperplasia work?
Congenital adrenal hyperplasia is a genetic disorder. 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.
How is non classical adrenal hyperplasia treated?
Non-classical adrenal hyperplasia can be treated effectively using drugs called corticosteroids. The treatment slows growth in children and delays puberty so that it can start on time. In adult women, this treatment can be used to regulate the menstrual cycle, prevent hairiness and acne, as well as improving fertility.
What happens if you don't treat congenital adrenal hyperplasia?
Left untreated, these imbalances lead to other problems, like heart arrhythmias (irregular heartbeat), cardiac arrest, and death. Untreated nonclassic CAH can lead to early puberty and short stature in a male, and permanent male type body changes in a female child, or irregular periods and infertility in a young woman.
Is congenital adrenal hyperplasia curable?
Although there is no cure, with proper treatment, most people who have CAH . can lead full lives.
What is the life expectancy of someone with congenital adrenal hyperplasia?
Main outcome measures: Mortality and causes of death. Results: Mean age of death was 41.2 ± 26.9 years in patients with CAH and 47.7 ± 27.7 years in controls (P < . 001). Among patients with CAH, 23 (3.9%) had deceased compared with 942 (1.6%) of controls.
How do you fix adrenal hyperplasia?
Classic CAH is treated with steroids that replace the low hormones.Infants and children usually take a form of cortisol called hydrocortisone.Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol.More items...•
Does congenital adrenal hyperplasia cause weight gain?
Conclusion: This study showed a significant effect of congenital adrenal hyperplasia on both height, weight, and body mass index.
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.
Is CAH a disability?
When Kayla's parents spoke to a lawyer, they learned that her CAH probably qualified as a disability under the Americans with Disabilities Act because it substantially limits her endocrine function.
What is the major defect in 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.
What is the most common cause of congenital adrenal hyperplasia?
The most common cause of CAH is the absence of the enzyme 21-hydroxylase. Different mutations in the gene responsible for 21-hydroxylase result in different levels of the enzyme, producing a spectrum of effects.
Is CAH an autoimmune disease?
According to literature, we could only find one reported case of CAH occurring together with complete adrenal cortex insufficiency suspected to be autoimmune adrenalitis.
What are the medications for CAH?
Medications may include: Corticosteroids to replace cortisol.
What doctor treats CAH?
Your doctor will likely refer your child to a doctor who specializes in childhood hormonal issues (pediatric endocrinologist) for treatment of CAH. The health care team may also include other specialists, such as urologists, psychologists and geneticists.
What test is used to diagnose CAH in fetuses?
Tests used to diagnose CAH in fetuses include: Amniocentesis. 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. Maternal blood test.
What tests are done to confirm CAH?
If the doctor suspects CAH based on a physical exam and symptoms, the next step is to confirm the diagnosis with blood and urine tests. Blood and urine tests. These tests look for abnormal levels of hormones produced by the adrenal glands. Gene testing.
What is the best treatment for ambiguous genitalia?
Reconstructive surgery. In some female infants who have severe ambiguous genitalia as a result of classic CAH, doctors may recommend reconstructive surgery to improve genital function and make them look more feminine. Surgery may involve reducing the size of the clitoris and reconstructing the vaginal opening.
Why do we need genetic testing for CAH?
In older children and young adults, genetic testing may be needed to diagnose CAH. Testing to determine a child's sex. In female infants who have severe ambiguous genitalia, tests can be done to analyze chromosomes to identify genetic sex.
Does cortisone cause Cushing syndrome?
On the other hand, too much cortisone can cause Cushing syndrome.
What is CAH in medical terms?
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that arise from defective steroidogenesis. The production of cortisol in the zona fasciculata of the adrenal cortex occurs in five major enzyme-mediated steps.
What is the purpose of CAH screening?
Newborn screening for CAH, which utilizes 17 hydroxyprogesterone levels, is a useful tool for early detection of CAH prior to the development of adrenal crisis in the affected neonate. However, screening is associated with a high rate of false positive results as levels are affected by prematurity and birth weight.
What is the ACTH?
ACTH stimulates cholesterol cleavage, the rate limiting step of adrenal steroidogenesis. The clinical symptoms of the five different forms of CAH result from the particular hormones that are deficient and those that are produced in excess as outlined in Table 1.
What is the cause of CAH?
The production of cortisol in the zona fasciculata of the adrenal cortex occurs in five major enzyme-mediated steps. CAH results from deficiency in any one of these enzymes. Impaired cortisol synthesis leads to chronic elevations of ACTH via the negative feedback system, causing overstimulation of the adrenal cortex and resulting in hyperplasia ...
What is the precursor to 21 OHD?
In 21 OHD-CAH, there is an accumulation of 17-hydroxyprogesterone (17-OHP), a precursor to the 21-hydroxylation step, which is then shunted into the intact androgen pathway, where the 17,20-lyase enzyme converts the 17-OHP to D4-androstenedione, which is converted into androgens.
Does cortisol increase ACTH?
Therefore, a decrease in cortisol secretion leads to increased ACTH production, which in turn stimulates (1) excessive synthesis of adrenal products in those pathways unimpaired by the enzyme deficiency and (2) an increase of precursor molecules in pathways blocked by the enzyme deficiency. Figure 1.
Is 21-OHD a non-classical enzyme?
Non-Classical 21-Hydroxylase Deficiency. Individuals with the non-classical (NC) form of 21-OHD have only mild to moderate enzyme deficiency and present post natally, eventually developing signs of hyperandrogenism. Females with NC-CAH do not have virilized genitalia at birth.
What is CAH in women?
Simple virilizing (non-salt-wasting) CAH causes a less-severe aldosterone deficiency. Androgen levels are also elevated in this type of CAH. Symptoms of simple virilizing CAH may include: Ambiguous (unusual) external genitalia, particularly in females.
When is CAH diagnosed?
This screening determines whether a child has classic CAH. In almost all cases, doctors diagnose classic CAH in infants and young children. Diagnosis of nonclassic CAH may not occur until a person begins to show symptoms of the disease. In some cases, this may not happen until early adulthood.
How to treat congenital adrenal hyperplasia?
Doctors prescribe several types of medications, including salt supplements and steroids, to people living with classic CAH.
What are the two types of CAH?
There are two main types of CAH: classic CAH and nonclassic CAH. The symptoms depend on the type of CAH you have. There are much more rare forms of CAH with different symptoms. Cleveland Clinic is a non-profit academic medical center.
What is salt wasting CAH?
Salt-wasting CAH is the most severe form of this disease. People living with salt-wasting CAH have adrenal glands that don’t produce enough aldosterone, a hormone that helps regulate sodium (salt) levels in the body. Low levels of aldosterone result in too much sodium being lost from the body in urine.
What are the health problems associated with salt wasting CAH?
Cardiovascular problems, including low blood pressure and arrhythmias (heart rhythm problems) Vomiting. Low blood glucose (blood sugar) Metabolic acidosis (too much acid content in the blood) Shock. Additionally, people living with salt-wasting CAH have high levels of androgens, or male sex hormones, in their bodies.
Can CAH be severe?
People with nonclassic CAH also have too little 21-hydro xylase enzyme activity, but this deficiency isn’ t as severe as in other forms of the disease. You may be unaware you have this form of CAH because your symptoms are more mild. Children, teenagers and adults are all diagnosed with nonclassic CAH.
What is the best treatment for CAH?
CAH requires lifelong treatment with cortisol. Your child will typically begin taking a synthetic cortisol or glucocorticoid (such as hydrocortis one, prednisone or dexamethasone) as a pill given by mouth every day.
What is the most severe form of CAH?
There are two forms of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Classical CAH: This is the most severe form of the disease and is less common. In people with classical CAH, the body fails to produce any cortisol, which is needed to regulate blood ...
What is the missing enzyme in adrenal hyperplasia?
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. There are two forms of congenital adrenal hyperplasia ...
How to test for congenital adrenal hyperplasia?
All infants born in the United States are screened for congenital adrenal hyperplasia through a blood test. If your child is diagnosed with CAH, his physician may order additional blood tests, as well as other tests, including ultrasounds or X-rays of the abdomen and pelvis, to view the adrenal glands and the structure of your child’s internal ...
What to do if your child can't make aldosterone?
If your child is unable to make aldosterone, her doctor may also prescribe an aldosterone replacement, which is also given as a pill once or twice a day. When a child with CAH gets sick, is injured or needs surgery, she will need high doses of cortisol, called “stress doses.”.
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 are the characteristics of CAH?
Teenage and adult females who have nonclassic CAH may have normal appearing genitals at birth, but later in life, they may experience: Irregular or absent menstrual periods. Masculine characteristics such as facial hair, excessive body hair and a deepening voice. Severe acne.
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.
Why do people with CAH have diarrhea?
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.
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.
Can you have adrenal hyperplasia with a cure?
In people who have CAH, a genetic problem results in a lack of one of the enzymes needed to make these hormones. Although there is no cure, with proper treatment, most people who have congenital adrenal hyperplasia can lead normal lives . There are two major types of congenital adrenal hyperplasia: Classic CAH.
When to see a doctor for CAH?
When to see a doctor. 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.
Where does CAH occur?
CAH occurs when there is a broken genetic “recipe” for making cortisone in the adrenal glands (the glands on top of the kidneys that make various hormones and add them to the blood stream).
What are the characteristics of CAH?
So CAH can cause the person to develop masculine-typical characteristics like dense body hair, a receding hairline, deep voice, prominent muscles, etc. Sex phenotype varies along the full continuum, with the possible added complication of metabolic problems which upset serum sodium balance.
Why does intersex occur in relation to CAH?
To be more specific, intersex occurs in relation to CAH when an anomaly of the adrenal function causes the synthesis and excretion of an androgen precursor, initiating virilization of a XX person in-utero. Because the virilization originates metabolically, masculinizing effects continue after birth.
Can CAH be counteracted with cortisone?
The metabolic effects of CAH can be counteracted with cortisone. The long term use of cortisone itself produces significant dependence and other side effects, all of which need to be explained honestly and openly.
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