Adrenal Hyperplasia Explained
Written by Ben Bunting: BA(Hons), PGCert. Sport & Exercise Nutrition. British Army Physical Training Instructor.
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Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) is a hereditary (inherited) disorder that affects the adrenal glands, which are cone-shaped organs located above the kidneys.
These organs normally produce hormones that control your body's response to stress and illness.
In CAH, an enzyme defect prevents the adrenal glands from producing cortisol -- a chemical that helps your body fight illness or respond to stress.
The lack of cortisol can cause a serious condition called an "adrenal crisis" that can lead to dehydration, vomiting and low blood pressure.
Symptoms
The adrenal glands sit on top of each kidney and produce hormones that help your body regulate the amount of sugar in your blood and respond to stress. Without these hormones, you may feel depressed or experience other symptoms of stress.
Congenital adrenal hyperplasia occurs when you lack an enzyme that the adrenal glands need to make these hormones.
The result is that your body can’t make enough cortisol and aldosterone. This causes your body to produce more androgen, a type of male sex hormone.
Females with classic congenital adrenal hyperplasia usually have ambiguous genitalia (i.e., they don’t have typically female-appearing genitals).
They also produce too little cortisol and aldosterone and too much male hormone (androgens).
Boys with classic CAH may be prematurely virilized, which means they develop an enlarged penis, early muscle growth and severe acne. They also have a higher risk of developing testicular adrenal rest tumors during adolescence and adulthood.
These tumors can cause infertility. Some patients need to take lifelong steroid medication to control their condition.
Treatment is started when a patient shows signs of precocious puberty or excessive male hormone production. Treatment includes hormone replacement therapy.
Children with classical CAH are born with enlarged adrenal glands and often have a short stature. During childhood, they may develop a deep voice and facial hair. Girls with classic CAH also can develop a male voice, alongside abnormal menstrual periods.
Other symptoms include a higher risk of infertility and obesity. Some patients will develop osteoporosis as they age.
Symptoms vary from person to person, depending on how severe their condition is. Severe cases can be diagnosed before or during birth.
In most cases, children with CAH have good prognoses. If they receive early diagnosis and treatment, they can lead normal lives and go to school.
They can also have children and participate in sports, hobbies and other activities.
However, if left untreated, the disorder can result in other health problems. If you have questions about CAH, you can ask your doctor.
What hormone causes adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) results from a genetic mutation that affects the adrenal gland's ability to make certain hormones. These hormones include cortisol, aldosterone and androgen.
The body uses the hormones to maintain normal blood pressure, sugar levels and energy.
They also help control the body's response to stress. When the body doesn't make enough of these hormones, it can lead to problems with blood pressure, sugar and energy.
Classic CAH:
This form of CAH occurs when your body doesn't produce enough of the hormone cortisol or aldosterone, or both.
This can cause problems with your blood pressure, sugar and energy levels, and can be life-threatening if it goes too long without producing these hormones.
Female infants with classic CAH are born with atypical genitalia, which means that their clitoris and labia look like a penis or a scrotum, instead of a vagina.
This can cause fertility problems later in life, because it can make it harder to get pregnant and have children.
Nonclassic CAH:
This is a less severe form of CAH that doesn't show up until later in childhood or adolescence.
The body doesn't make enough of the hormone cortisol or the hormone aldosterone, and it makes too much of the hormone androgen.
This can lead to symptoms such as excess body hair, early puberty and irregular periods.
Salt-Wasting CAH:
This type of CAH occurs when your body doesn't make enough aldosterone, which helps keep your salt levels in balance.
This can cause too much sodium to be lost from your body through your urine, which can lead to dehydration. This can cause other symptoms, such as headaches and dizziness.
You can't do anything about this type of CAH. It's a lifelong condition that needs medication to be treated.
Does adrenal insufficiency affect testosterone?
Your body’s two adrenal glands, just above the kidneys, work with your hypothalamus and pituitary glands in the brain to produce hormones.
The hormones help break down fats, proteins, and carbohydrates in your bloodstream, regulate your blood pressure, and help your immune system function normally.
Adrenal insufficiency can occur because the adrenal glands don’t make enough cortisol, which is responsible for these functions.
The condition can occur for a number of reasons, including Addison’s disease and secondary adrenal insufficiency.
Primary adrenal insufficiency (Addison’s disease) is an uncommon illness that happens when the adrenal glands make too little cortisol and aldosterone. It can be life-threatening if not treated.
The most common cause of primary adrenal insufficiency is an autoimmune reaction that damages the glands.
This can happen after surgery, major stress, and in people with HIV who have a weakened immune system.
Secondary adrenal insufficiency can also happen when a person’s pituitary gland or hypothalamus can’t make enough of the hormone ACTH, which triggers cortisol production.
This can happen if a person has a condition that causes the pituitary to become damaged or if they’ve been on long-term steroid therapy, such as hydrocortisone, prednisone, and dexamethasone.
Tertiary adrenal insufficiency can also happen if a person stops taking steroids abruptly.
This can happen if a person’s body doesn’t get the stimulation it needs to produce CRH when they stop using steroids, which can lead to reduced production of cortisol by the adrenal glands.
Diagnosis
Your healthcare service may do a blood test called a karyotype. They will also do a genetic test and hormone tests to find out what's causing your condition.
Your adrenal glands sit on top of your kidneys and make hormones that help control stress, blood sugar levels and other body functions.
These hormones include cortisol and aldosterone, which regulate salt and water levels in the body, and androgens, which promote muscle growth and cause the development of underarm and pubic hair during puberty.
In people with CAH, their adrenal glands don't produce enough of these hormones. This causes excess androgens to build up in the body.
This can lead to unwanted male characteristics, such as early facial and underarm hair, clitoromegaly or ambiguous genitalia, and premature sexual development.
Classic congenital adrenal hyperplasia is usually diagnosed at birth and needs lifelong treatment. It's caused by an inherited enzyme deficiency that prevents the adrenal gland from making 21-hydroxylase.
This enzyme converts the female hormone 17-hydroxyprogesterone into the hormones cortisol and aldosterone.
Without enough 21-hydroxylase, the hormones don't produce well and build up in the adrenal gland.
Nonclassical congenital adrenal hyperplasia (NCAH) is caused by an inherited enzyme deficiency.
It causes too much cortisol and aldosterone to build up in your adrenal glands. It's often hard to diagnose, and it can show up later in life.
You'll need to have a doctor test your body for the right balance of steroid hormones. The doctor may do blood tests or a test called an adrenocorticotropic hormone (ACTH) stimulation test to check your cortisol levels.
The doctor might also ask you questions about your symptoms or your family history of CAH. You may need to be referred to a specialized doctor who treats patients with this condition.
Your doctor will do tests to determine if you have classic or nonclassical CAH. They may also recommend genetic testing to learn if you have an inherited form of the disease.
Treatment
If you have CAH, you'll need to take hormones for your entire life. These medications will help regulate your cortisol, aldosterone, and androgen production.
They'll help you have good health and lead a normal, happy life. They'll also reduce your risk of getting other health conditions.
Your doctor will need to check for other problems that can occur with your adrenal glands if you have this condition.
They may do blood work or other tests to see if you have other medical conditions that are related to your adrenal condition.
The adrenal glands sit on top of the kidneys and make hormones that control energy, blood sugar, and salt levels.
These hormones also help regulate stress responses and body temperature.
In congenital adrenal hyperplasia (CAH), a mutation causes the adrenal glands to make too little cortisol and/or aldosterone.
In addition, the glands may also produce too much testosterone and other male sex hormones, known as androgens.
CAH is caused by a gene mutation that causes a defect in one of the enzymes that makes steroid hormones. The most common enzyme defect is 21-hydroxylase deficiency, which affects cortisol synthesis.
Without this enzyme, the adrenal glands may not be able to make enough cortisol and aldosterone. As a result, these hormones are not made properly and can cause many health problems.
Classic CAH can be diagnosed at birth or later in life, depending on the severity of the condition and the type of genetic mutation involved.
Children with classic CAH are at risk of developing an adrenal crisis, which can be very serious and can lead to kidney failure if it is not treated right away.
Boys and girls with CAH are usually born with atypical external genitalia, or they can develop them at a very young age. The genitalia are typically asymmetric and can lead to early puberty.
Both boys and girls with CAH are at risk of developing fertility problems. This is because the androgens produced by the adrenal glands can cause fertility issues for girls, and can affect male fertility in boys.
There are different treatments for congenital adrenal hyperplasia.
They all aim to replace deficient cortisol and normalise the excessive male hormone secretion. These treatments can involve using glucocorticoids in childhood and a variety of steroids in adulthood.
Patients can use glucocorticoid replacement medications, such as hydrocortisone or prednisone, to help maintain normal cortisol levels.
Hydrocortisone is a short-acting steroid and is usually given three times a day, while other glucocorticoids are longer-acting and administered once or twice daily.
Prevention
People with congenital adrenal hyperplasia do not have enough of an enzyme called 21-hydroxylase, which their adrenal glands need to make these hormones.
Without this enzyme, your body cannot produce enough of these hormones to stay healthy.
Unfortunately, this is a condition that is hereditary and passed through birth, there is not a way of preventing it.
A person with CAH can have a variety of symptoms depending on which hormones their adrenal glands make too little or too much of.
They may have difficulty growing and losing weight. They may also develop an 'adrenal crisis', which can be serious.
If you are a carrier for one of these genes, you can have genetic testing to find out if you're at risk of having a child with CAH.
This will help you make a plan to have children with normal chromosomes, or to have them tested for CAH.
You can also ask your doctor about prenatal genetic testing if you have a history of CAH or if you're considering becoming pregnant.
You can get a blood test to check for the gene mutations that cause this disorder.
The most common form of CAH is known as 21-hydroxylase deficiency. This type of CAH can affect both boys and girls. It occurs in about 1 in every 10,000 to 18,000 newborns.
Another form of CAH is known as non-classical CAH (NCAH). This type of CAH happens in about 1 in every 1,000 newborns. NCAH affects both boys and girls but is a less severe form of the condition.
Patients with this form of CAH have a higher rate of heart disease and metabolic problems. They are also more likely to develop fertility problems in adulthood.
Most patients are treated with medications that help their bodies balance the levels of these hormones.
Treatment is usually started at an early age and usually includes low doses of glucocorticoids. The exact dosage depends on the severity of the patient's symptoms and the specific gene mutation they have.
Bilateral Adrenal Hyperplasia
Bilateral adrenal hyperplasia is a rare disorder that can cause symptoms of high blood pressure.
It's caused by the excess production of aldosterone, which helps your body control salt and water levels in your blood. Your adrenal glands are found above each kidney.
They make cortisol and aldosterone, two important hormones that regulate your blood pressure, energy levels and water and sodium (salt) levels in your body.
Symptoms may include headache, dizziness, fatigue, insomnia and increased hunger. Treatment for congenital adrenal hyperplasia involves medical therapy and surgery.
Acute Cushing syndrome, a common complication of bilateral adrenal hyperplasia, is characterized by an overproduction of the adrenal hormone cortisol that can lead to dangerously high blood pressure and other problems.
In 80% of patients with Cushing's syndrome, the overproduction is due to an adenoma on the pituitary gland or neuroendocrine tumor, and in 20%, it is due to an abnormality in the endocrine system.
In many cases, the adenoma is benign and nonfunctional, and treatment can be effective. Other times, the adenoma is malignant and must be removed to prevent complications, such as death.
Adrenal hyperplasia can occur in any age and in both genders. It's caused by an abnormality of the growth pattern of the adrenal glands, which leads to overproduction of the hormones cortisol and aldosterone.
It can also occur from other conditions, such as cancer of the adrenocortical gland or from a brain tumor called a pheochromocytoma.
Surgical removal of the adenoma or adrenal hyperplasia is often successful. It's usually performed by a surgeon who specializes in adrenal surgery.
Depending on the type of adrenal hyperplasia, the glands can be divided and reattached, or they may be removed completely.
Unilateral adrenalectomy, the removal of both adrenal glands, is a safe and effective treatment for bilateral adrenal hyperplasia.
However, it does not always relieve the symptoms of cortisol overproduction. Consequently, it requires a long-term follow-up of the patient to monitor the effects of the surgery on the patient's health.
The occurrence of unilateral adrenalectomy has led to the development of an alternative surgical technique known as "adrenal-sparing surgery".
In this procedure, a single adrenal is removed with up to two-thirds of the other one left behind to treat pheochromocytoma and other adrenal lesions.
This is an interesting option that needs to be evaluated more thoroughly.
Accurate diagnosis of adenoma and hyperplasia is a challenging issue because of the wide variety of adrenal lesions that are commonly encountered on CT scans.
Moreover, there is considerable disagreement among radiologists regarding the diagnosis of adenoma or hyperplasia on CT, especially in those with large lesions.
Consequently, there is the need for clinical correlation and dynamic testing to differentiate these lesions.
How is bilateral adrenal hyperplasia treated?
Adrenal glands produce cortisol, aldosterone and other hormones that regulate the body's response to illness or injury.
They also produce mineralocorticoids, which control the amount of salt and water in the blood.
Congenital adrenal hyperplasia (CAH) is an inherited disorder that occurs when the adrenal glands don't make enough of these three hormones.
CAH can occur in both boys and girls and can affect a person's growth, development and behavior.
There are two forms of CAH: classic CAH and non-classic CAH. The classic form is caused by a deficiency of an enzyme called 21-hydroxylase.
This enzyme is needed to make cortisol and aldosterone.
Treatment for bilateral adrenal hyperplasia involves medication that suppresses the production of cortisol and aldosterone.
The medication will include aldosterone-antagonist drugs such as spironolactone or more selective aldosterone-blockers such as eplerenone.
Once the patient is stabilized on these medications, his potassium levels will be normalized. He will need to be monitored regularly by an endocrinologist.
Eventually, he can be off of all his blood pressure medications and be treated with a low-salt diet and lisinopril to control his high cholesterol.
Adrenal Hyperplasia Conclusion
The adrenal glands (located at the top of each kidney) are responsible for three hormones: cortisol, aldosterone and androgens.
These three hormones work together to help your body respond to illness, injury and stress. They also help regulate your body’s salt and water levels.
Congenital adrenal hyperplasia is an inherited condition that occurs when you don’t make enough of the proteins and enzymes that are responsible for making these hormones. Usually the cause is a mutation or deletion in one of these genes.
Classic congenital adrenal hyperplasia: This form is diagnosed soon after birth and typically causes ambiguous external genitalia in infants, enlarged penis, short stature, abnormal growth, early puberty, and problems with fertility.
Children with classic CAH usually have a mutation or deletion in the gene encoding the adrenal hormone 21-hydroxylase.
Nonclassical congenital adrenal hyperplasia: Often found in late childhood or early adulthood, nonclassical CAH is caused by a genetic change that affects the synthesis of the adrenal hormones.
This change, called 21-hydroxylase deficiency, prevents the compounds that make cortisol and aldosterone from being able to build up in your adrenal glands.
These hormones are crucial for normal growth and development in both boys and girls. Without them, the body will produce excessive male hormones (androgens), which can result in atypical genitalia and abnormal growth.
These symptoms may be life-threatening if not treated. However, with proper treatment, most people with CAH live long and happy lives.
