Medically reviewed and verified by Kate Burke, MD, MHA
Estimated reading time: 7 minutes
Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands, two small glands found on top of the kidneys. These glands play a vital role in producing hormones that regulate various bodily functions. These include metabolism, immune response, blood pressure, and sexual development. The body is complicated, but it is important to understand how changes to something like the adrenal glands can affect you both physically and mentally! In this comprehensive overview, PatientsLikeMe will look at CAH, what it is, common side effects, and how it is treated.
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The Role of the Adrenal Glands
Let us start with the part of the body this condition primary impacts: the adrenal glands. Also known as suprarenal glands, these are small, triangular objects on top of both kidneys. These produce hormones that help regulate metabolism, your immune system, blood pressure, stress response, and other essential functions.
The adrenal glands are made up of two parts: the cortex and the medulla. Each part is responsible for producing a few different hormones.
Aldosterone
Aldosterone helps to regulate blood pressure by managing the levels of sodium and potassium in your blood. Sodium and potassium are electrolytes, which are minerals that help balance fluid levels and keep your nerves and muscles functioning properly. Aldosterone also helps to control the amount of water reabsorbed by your kidneys. This in turn impacts blood volume and blood pressure.
Cortisol
Cortisol helps control the body's use of fats, proteins and carbohydrates. It suppresses inflammation, regulates blood pressure, increases blood sugar, and can decrease bone formation. Cortisol also controls the sleep/wake cycle. In times of stress, the body releases cortisol to help get an energy boost and better handle emergencies.
Sex Hormones
Androgens are a group of hormones. These are essential to physical development. Androgens help people enter puberty and mature physically. They contribute to bone density, muscle development, red blood cell production, and sexual function. They occur naturally in both males and females. In this group there is one specific hormone to highlight that is affected by CAH: Testosterone. The hormone testosterone is the major sex hormone in males, essential to development. It helps with the development of the penis and testes, muscle size and strength, bone growth and sperm production. It is also, however, important for female development. Women naturally produce Testosterone in the adrenal glands and ovaries. It helps with ovarian function, bone strength, and thought to contribute to sexual behavior.
Adrenaline
We're guessing many people have heard of the hormone. If you have ever seen the phrase "fight or flight," you are familiar with the effect that adrenaline has on your body. When you are scared or stressed, adrenaline is pumped into your bloodstream. This helps you to react to dangerous situations by increasing heart rate, breathing, and slowing digestion so other muscles can use the blood that normally would go to digestive organs.
In people with CAH, there is an enzyme missing that is needed to produce one or more of the above hormones. Enzymes are proteins that help to speed up chemical reactions in the body. Without the ability to produce one or more of the hormones mentioned earlier, there is a dramatic impact on bodily function. All the things that aldosterone, cortisol, sex hormones, and adrenaline do would be affected. Blood pressure, inflammation, bone development, sexual development, muscle strength, etc.: all potentially changed by CAH.
Common Signs and Symptoms
So, what exactly should you look for in someone with congenital adrenal hyperplasia? It depends. There are two types of the disease: classic and nonclassic. Classic CAH can further be broken down into two sub-categories: salt wasting and simple virilizing.
Classic CAH
In salt-wasting CAH, the adrenal glands do not produce enough aldosterone or cortisol. This means the body cannot retain salt! Too much is lost through the urine, hence the name. Over time, this can cause a wide range of symptoms. Dehydration and diarrhea, vomiting, and arrhythmia are most common. Low blood pressure and low blood glucose levels are also common. People can suffer from weight loss, and a condition called metabolic acidosis (high blood acidity) may occur.
In simple virilizing CAH, the adrenal glands produce lower amounts of cortisol and more androgens than normal. It is a less severe form of the disease. Both males and females tend to appear more masculine.
Nonclassic CAH
This is considered the "mild" form of the disease. Often, people with it do not even know that they have the condition! In nonclassic CAH, the adrenal glands produce too many androgens, but much less than what occurs in classic CAH. Symptoms can include extra face or body hair, acne, period problems, infertility, and body odor. This condition often does not require treatment. The underlying symptoms, however, can be addressed by working with your doctor.
Congenital adrenal hyperplasia (CAH) is a rare, lifelong genetic condition involving the adrenal glands.
Watch now: Understanding CAH: A guide to the basics
CAH affects three important hormones that help the body function: cortisol, aldosterone, and androgens. Cortisol manages the body's stress response, while aldosterone helps balance sodium and water levels, both of which also help regulate blood pressure. Androgens on the other hand impact growth, puberty, and reproduction.
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What Causes CAH?
CAH is a genetic disorder. It is inherited in an autosomal recessive pattern. This means that a child must inherit two copies of the mutated gene, one from each parent, to develop the condition. People who inherit only one copy of the mutated gene are known as carriers and typically do not exhibit symptoms of CAH. However, they can pass the mutated gene on to their children. This increases the risk of the condition in the future.
The genetic mutation most often affects an enzyme called 21-hydroxylase. The adrenal glands need this enzyme to produce the appropriate number of hormones for the body. When the enzyme is not present, the body is in a 21-hydroxylase deficiency. This results in decreased cortisol production, which the body then compensates for by stimulating the adrenal glands. They then produce androgens, leading to a hormone imbalance. How severe CAH is depends on the level of this deficiency. For nonclassic CAH, enzyme production is reduced but the body can still produce enough cortisol and aldosterone to function.
Less commonly, there can be a mutation in the enzyme 11-hydroxlase. In this instance, the adrenal glands produce excess androgens. In the classic form, people with this variation often have elevated blood pressure and early growth spurts. Females born with the condition often have external genitalia that does not look clearly male or female. In nonclassic, males typically do not have any symptoms except for being slightly shorter. Females may develop excessive body hair and menstruate irregularly but have normal female genitalia.
Diagnosis and Treatment
Diagnosing CAH is typically done before a baby is born, shortly after birth, or during childhood. It can, however, be diagnosed later in life. This involves a combination of physical examination, blood tests, and imaging studies. Newborn screening tests may find elevated levels of certain hormones or abnormalities in genital development. This would then prompt more evaluation. Blood tests can confirm hormone imbalances, while imaging studies such as ultrasound may provide additional information about the adrenal glands and genitalia.
Treatment for congenital adrenal hyperplasia mostly replaces deficient hormones. Doctors also try to manage symptoms and prevent further complications. Hormone replacement therapy is common in more severe cases in children. Doctors can prescirbe certain medications, such as hydrocortisone to replace cortisol and fludrocortisone to replace aldosterone. People with CAH may require higher doses of medication during times of stress or illness to prevent adrenal crisis. This is a life-threatening condition caused by a cortisol deficiency.
Surgery can correct abnormalities. This usually happens in classic CAH if changes to the genitals have affected urine flow.
Congenital Adrenal Hyperplasia is a complex condition that requires careful management by a team of medical professionals. Understanding the causes, symptoms, and treatment options is essential for individuals and families affected by this disorder. With ongoing medical care and support, people with CAH can live full and healthy lives!
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