Is it a hormonal problem? Let's learn about Congenital Adrenal Hyperplasia (CAH) in simple terms

Have you noticed any changes or concerns about the appearance of your newborn daughter's genitals? Or is your little boy starting to show signs of puberty before his due date? Maybe your child is vomiting, bloated, or just plain lethargic? Today we're going to talk about a genetic condition that can cause these things. We call this Congenital Adrenal Hyperplasia, or CAH for short. Don't worry, the name may sound a bit complicated, but let's keep it simple.

What does CAH simply mean?

Okay, let's first look at what CAH is. We all have two glands, like little hats, above our kidneys. These are what we call the adrenal glands. These two little glands produce several very important hormones that are essential for the functioning of our body.

• Cortisol: This is the main stress hormone in our body. It prepares the body to deal with illness, danger, and stress. It also helps regulate blood pressure, energy levels, and blood sugar levels.
• Aldosterone: This hormone helps maintain the right balance of salt (sodium) and water in our bodies, thereby controlling blood pressure and blood volume.
• Androgens: These are the male sex hormones. Testosterone is one such hormone. These hormones are very important for the onset of puberty, normal growth and development.

Now, what happens to someone with CAH is that a specific enzyme that is needed to produce these hormones is missing or reduced in the body. Just like if a spice is missing from a dish, the taste of the dish changes, when this enzyme is missing, the adrenal glands are unable to produce these hormones properly.

So what happens?

• Perhaps the hormone cortisol is not being produced as much as necessary.
• Perhaps the hormone aldosterone is not being produced as much as necessary.
• Instead, male hormones called androgens begin to be produced in excess .

This hormonal imbalance is the root of all the problems that arise in CAH.

Are there main types of CAH?

Yes, there are two main types of CAH. 95% of diagnosed patients fall into these two types.

1. Classic CAH: This is the most severe and serious form of CAH. It is usually diagnosed at birth. If not treated properly, it can lead to shock, coma, and even death. Therefore, it is extremely important to diagnose and treat this condition early. There are two subtypes of this type.

• Salt-wasting CAH: This is the most severe type of CAH. In this case, the hormone aldosterone is produced in very low amounts. This causes the body to be unable to regulate its salt (sodium) levels. As a result, excess salt is excreted in the urine. At the same time, the hormone cortisol is also reduced, and the hormone androgen is produced in excess.
• Simple-virilizing CAH (non-salt-excreting, common type): This is a slightly less serious condition. Here, the aldosterone hormone deficiency is not as severe. Therefore, life-threatening symptoms do not occur. However, the cortisol hormone is still low and the androgen hormone is high. This causes problems related to sexual development.

2. Nonclassic CAH: This is the mildest form of CAH. It is usually diagnosed in late childhood, adolescence, or adulthood. Some people may not have any symptoms at all. Here, too, some symptoms related to sexual development may occur due to the excess production of androgen hormones.

What are the possible symptoms of CAH?

CAH symptoms can vary depending on the type and gender. Let's look at the table below to understand this clearly.

Why does CAH develop? What is the cause?

Simply put, CAH is a genetic disease . This means it is something we inherit from our parents. It is not a contagious disease.

For every trait in our body, there are two genes, one from our mother and one from our father. For CAH to occur, a child must inherit the defective gene from both their mother and father . This condition is called an autosomal recessive disorder.

CAH is most often caused by a deficiency of the enzyme 21-hydroxylase. It is caused by a mutation in the gene that codes for this enzyme.

How do you find out if you have CAH?

Classic CAH (severe type)

This is the best news. Many hospitals in Sri Lanka now include the Classic CAH screening test among the tests that are performed at birth. This is done a few days after the baby is born, using a small drop of blood taken from the baby's heel . This test (newborn screening) can quickly detect whether the baby has Classic CAH. This means that treatment can be started before symptoms appear, saving the baby's life.

If a family with a child who already has CAH is expecting another child, it is possible to test the baby for the condition during pregnancy. There are special tests for this, such as amniocentesis. Talk to your doctor about this.

Nonclassic CAH (mild type)

This mild form can be a little late to recognize because symptoms appear later. When you or your child starts to experience the symptoms mentioned above, you should see a doctor. The doctor will:

• A physical examination is performed.
• Blood tests and urine tests check hormone levels.
• Sometimes genetic testing can confirm the disease.

What are the treatments for this?

CAH cannot be cured completely. However, with proper treatment, it can be well controlled and you can live a completely normal, healthy life . Treatment depends on the type of disease and the severity of the symptoms.

Treatment for Classic CAH

These people have to take medication daily for the rest of their lives . The main goal of treatment is to balance hormone levels by administering hormones that are deficient in the body. This helps to ensure normal growth and sexual development.

• Glucocorticoids: These medications replace the cortisol hormone that the body does not produce. The dose of these medications may need to be increased when the child has an illness such as a fever, an infection, or during stressful situations such as surgery.
• Mineralocorticoids: These are given to replace the hormone aldosterone that is not produced in the body.
• Salt supplements: Newborns with salt-wasting syndrome are given sodium chloride to replace the salt lost from the body.

Another treatment option is surgery to correct ambiguous genitalia in girls. This can usually be done between 2 and 6 months after the baby is born.

Treatment for nonclassic CAH

People with this mild form may not need any treatment if they are asymptomatic. If they have mild symptoms, they can be given low doses of glucocorticoids. These people often do not need lifelong treatment.

In any of these situations, seeking mental health counseling to talk about the stress and problems that the child and parents may be experiencing is a very important part of treatment.

What complications can occur if left untreated?

If left untreated, especially the salt-wasting type of Classic CAH, it can be very dangerous. Excessive salt and water loss from the body can lead to complications that can even be life-threatening. If the child is vomiting profusely, is limp, or is not sucking , they should be taken to a hospital's emergency treatment unit (ETU) immediately.

What can happen if left untreated:

• Irregular heartbeat (Arrhythmia)
• Cardiac arrest
• Even death can occur.

Nonclassic CAH can cause problems even if left untreated. For example, infertility, irregular menstrual cycles, and permanent male characteristics in women.

Congenital Adrenal Hyperplasia, CAH, hormonal problems, adrenal glands, genetic diseases, pediatric diseases, birth defects, ambiguous genitalia