Congenital adrenal hyperplasia: symptoms, medications, etc. • hello healthy

Definition

What is congenital adrenal hyperplasia?

Congenital adrenal hyperplasia or CAH is a congenital disease that occurs in the adrenal gland organs. The adrenal glands are small organs that are present in a pair on each person's body and are located at the top of the kidneys.

Each adrenal gland has a very important function in producing hormones and regulating several physiological functions.

Some of the important hormones produced by the adrenal glands, namely:

• Cortisol, regulates the body's response to disease and stress.
• Mineralocorticoids, regulate sodium and potassium levels, for example aldosterone.
• Androgens, regulate male sex hormones, for example testosterone.

Babies and children with CAH have congenital or genetic defects that prevent the adrenal glands from producing hormones.

The inhibition of the work of the adrenal glands to produce hormones occurs at a normal level or completely.

A baby or child who has this congenital adrenal hierplasia disease will experience disturbances in metabolism, endurance, reproductive hormones, and blood pressure.

CAH abnormalities cause little or no production of the hormones cortisol and aldosterone.

What are the types of congenital adrenal hyperplasia?

There are two types of congenital adrenal hyperplasia, namely:

1. Classic rights

The classic type is the most common with physical symptoms that begin to appear in infancy and childhood. For example, the body is too tall and signs of puberty have appeared early.

In this type, the adrenal glands cannot produce the hormones cortisol and aldosterone but start producing too much of the reproductive hormone testosterone.

2. Non-classic RIGHTS

This is the milder type, where physical symptoms occur at an older age such as in adolescents and young adults.

People with non-classic CAH can also produce the hormone aldosterone, but they may be deficient in cortisol. Testosterone production is also less than classic CAH.

How common is this condition?

Congenital adrenal hyperplasia or CAH for short is a rare disease, but has the potential to cause life-long health problems.

It is estimated that only one in 15,000 children are born with this congenital abnormality. With proper handling and control, people with this disorder can still live a normal life.

Signs & Symptoms

What are the signs and symptoms of congenital adrenal hyperplasia?

Classic congenital adrenal hyperplasia has physical signs that can be recognized since infancy and children, including:

• The genitals are bigger, the clitoris enlargement of the baby girl so that it resembles the penis of a baby boy so it is often said that the female genitalia is ambiguous. Meanwhile, male genitals appear normal.
• Experiencing weight loss
• It is very difficult to gain weight
• Often vomits for no reason
• Experiencing dehydration
• Growth is very fast in childhood, but height is shorter in adulthood
• Teenage girls experience irregular menstrual cycles
• In adulthood, both men and women are at risk of having difficulty having children

Classic congenital adrenal hyperplasia may develop and have no symptoms at all, but women with this condition may experience:

• Menstrual cycle disorders
• Sound too heavy
• Have more facial hair (such as growing a mustache)
• Not fertile (difficult to have children)
• Height tends to be short in adulthood

Other symptoms that can occur in classic and non-classical congenital adrenal hyperplasia in both women and men:

• Obesity
• Lighter bone mass
• Experiencing acne problems
• Have high cholesterol levels

One of the complications that can arise is an adrenal crisis. These events tend to be rare but very dangerous for someone who has congenital adrenal hyperplasia.

This condition causes a drop in blood pressure and blood sugar levels and goes into shock to cause death.

Be alert if a baby with CAH experiences dehydration, diarrhea and vomiting without cause.

When should I see a doctor?

Classical congenital adrenal hyperplasia is generally detected from a newborn through mandatory examinations.

Usually, boys and girls are known to have CAH when they show signs of disease because of low levels of the hormones cortisol, aldosterone, or both.

Meanwhile, in infants and children who have non-classic congenital adrenal hyperplasia, signs and symptoms of early puberty may appear more than in infants and children with classic CAH.

If you have concerns about the growth or development of a child or are pregnant and your baby is at risk for CAH, consult your doctor immediately.

The health condition of each person's body is different. Always consult a doctor in order to get the best treatment regarding your health condition.

Cause

What causes congenital adrenal hyperplasia?

Launching from the NHS page, congenital adrenal hyperplasia is a congenital defect that is passed down from parent to child. Congenital adrenal hyperplasia is also an autosomal recessive condition.

This means that both parents with this condition can become carriers of the disease. Furthermore, every human body, including babies, has about 20-30 thousand different genes.

Each of these genes is arranged in pairs on 23 chromosomes. It is possible that one or more genes could be wrong so that it affects the work of other genes.

Infants and children with faulty gene copy mutations associated with congenital adrenal hyperplasia (CAH) can develop this condition.

Furthermore, this erroneous gene mutation can result in the need for enzyme levels to make adrenal hormones low.

In general, low levels of the hormones cortisol and aldosterone and high levels of androgens in infants and children are the most common forms of CAH.

In short, autosomal recessive conditions for CAH are usually experienced by children whose parents both have CAH or carry the genetic mutation that causes the condition.

But apart from that, another common cause of congenital adrenal hyperplasia is a lack of 21-hydroxylase enzyme levels.

Risk Factors

What increases the risk of developing congenital adrenal hyperplasia?

According to the Mayo Clinic, several risk factors that increase babies and children to experience congenital adrenal hyperplasia, namely:

• Both parents have CAH or both are genetic carriers of CAH.
• Certain ethnic descent, such as Ashkenazi, Hispanic, Italian, Yugoslav and Yupik Inuit Jews.

Diagnosis & Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

Early diagnosis of this disease is important so that treatment can be done as soon as possible.

Congenital adrenal hyperplasia can be detected since the baby is still in the womb by examining samples of amniotic fluid from the uterus and placental cells.

Meanwhile, for babies who have been born, CAH examinations are in the form of a series of physical examinations, blood tests, urine tests and genetic tests.

If CAH can be diagnosed when the baby is in the womb, treatment can be done with corticosteroid hormone therapy.

The following describes the examination of congenital adrenal hyperplasia:

Test on the baby in the womb

Tests used to diagnose CAH while the baby is in the womb include:

• Amniocentesis, which involves using a needle to take a sample of the amniotic fluid from the uterus and then examine the cells.
• Chorionic villus sampling, involves removing cells from the placenta for examination.
• Maternal blood test, aims to determine the sex of the baby and the risk for developing CAH because the mother's blood plasma contains the baby's DNA.

Tests in newborns and children

Tests used to diagnose CAH in a newborn baby include:

• Physical examination or screening, performed when the doctor suspects symptoms of CAH.
• Blood and urine tests, which aim to determine the levels of abnormal hormones produced by the adrenal glands.
• Gene testing, usually performed by children and adults, is used to diagnose CAH.

What are the treatment options for congenital adrenal hyperplasia?

Some of the treatments to treat congenital adrenal hyperplasia include the following:

Administration of drugs

The administration of drugs for the treatment of CAH aims to reduce the production of excess androgen hormones, increase the production of deficient hormones, and relieve symptoms.

Babies and children who have classic CAH are encouraged to take hormone replacement medication regularly to manage their symptoms and condition.

Meanwhile, infants and children with non-classic CAH usually do not require treatment or only require small doses of corticosteroids.

Apart from corticosteroids, some drugs for CAH include mineralocorticoids and salt supplements.

Medicines for CAH are recommended to be taken daily, but during illness or stress it may require additional or higher doses of medication.

Reconstructive surgery

Girls aged 2-6 months can undergo reconstructive surgery called feminization genitoplasty.

This operation aims to change the appearance and function of the genitals so that they look more feminine.

Surgery usually involves reducing the size of the clitoris and changing the vaginal opening.

Complications

What are the possible complications of congenital adrenal hyperplasia?

Babies with classic CAH are at risk of experiencing an adrenal crisis due to low levels of cortisol in the blood.

This condition can cause diarrhea, vomiting, dehydration, and low blood sugar levels in babies. In contrast to non-classic CAH, which are generally not at risk of causing an adrenal crisis.

However, both classic CAH and non-classic CAH can cause fertility problems in both male and female babies later on.

Prevention

Is there a way to prevent this condition?

So far, there is no way that is assessed to prevent congenital defects of CAH in infants. So, if you and your partner have CAH and are at risk of causing a baby to be born with congenital defects, consult your doctor.

If you have any questions, consult your doctor for the best solution to your problem.