Congenital Adrenal Hyperplasia - Symptoms, causes and treatment

Congenital adrenal hyperplasia is a genetic disorder that makes the adrenal glands work too actively. This disease causes a woman's physical appearance to appear more masculine (ambigous genitalia)

The adrenal glands are located just above the kidneys, so they are also known as the adrenal glands. This gland functions to produce several hormones, one of which is the androgen hormone, which forms male physical characteristics.

In congenital adrenal hyperplasia (CAH), the adrenal glands are overactive. As a result, the production of androgen hormones becomes excessive. If it happens to women, HAK will cause their physical appearance to become more masculine.

HAK is a rare disease, which is estimated to occur in 1 in 15,000 births. This disease can also occur in men, but the symptoms that arise are different from the symptoms of CAH in women.

Causes of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia is caused by mutations (changes) in the CYP11B1 gene. Mutations in this gene cause the adrenal glands to produce less of the hormones aldosterone and cortisol.

Due to its low production, the function of the adrenal glands to produce the hormones cortisol and aldosterone will increase. On the other hand, the amount of androgen hormone produced becomes more so that the levels in the body are excessive.

Deficiency of the hormones cortisol and aldosterone and excess of androgen hormones will cause the symptoms of congenital adrenal hyperplasia.

Decreased pattern of congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is inherited from parents and is autosomal recessive. This means that there is a risk that C Rights will be passed on to children if both parents suffer from the disease. The risk of a child having CAH inherited from both parents is 25%.

Meanwhile, a child whose one parent has CAH will only be a carrier, not a sufferer. Even so, he can pass on the CAH to his child even though he himself does not experience any symptoms.

Symptoms of Congenital Adrenal Hyperplasia

The symptoms of congenital adrenal hyperplasia differ between women and men. In addition, the symptoms that appear also depend on the type of CAH itself.

Here are some symptoms that are divided by type, both in men and women:

Classic congenital adrenal hyperplasia symptoms

Classic congenital adrenal hyperplasia occurs when the adrenal glands are completely unable to produce the hormones cortisol and aldosterone. Symptoms of this type can be detected from birth, especially in baby girls. The following are classic CAH symptoms based on the gender of the sufferer:

• Girls

  Baby girls who suffer from classic CAH have more masculine physical characteristics. As a result, the gender becomes unclear (ambiguous genitalia). This condition is characterized by an enlarged clitoris that looks like a small penis.

• Boy

  Baby boy with classic CAH looks like a normal baby. However, he could have had more facial hair and a bigger-than-normal penis size.

In addition to the above symptoms, there are some classic CAH symptoms that can appear, both in women and men, namely:

• Fast growth in childhood, but below average height as adults
• Green hair grows faster
• Voice changes are more severe in females and occur more rapidly in males
• The growth of acne at a young age

Classic RIGHTS can also cause interference with the regulation of water and s alt levels in the body. This condition can occur when the sufferer is still a baby, a child or as an adult. Symptoms that appear include:

• Nausea
• Diarrhea
• Dehydration
• Losing weight and finding it hard to get back up
• Low blood pressure

Symptoms of nonclassical congenital adrenal hyperplasia

Nonclassical CAH occurs when the adrenal glands can still produce the hormone cortisol, but in small amounts. Symptoms of nonclassical CAH are milder than classic CAH. This type is rarely detected from birth, and the symptoms appear more often when the sufferer enters puberty.

The following are symptoms of nonclassical CAH that can appear in both men and women:

• pubic hair grows faster
• Fast growth in childhood, but after adulthood, has a lower than normal height
• severe acne
• High cholesterol
• Low bone density
• Obesity

In addition to the symptoms above, there are additional symptoms that can appear in women with non-classical CAH. The symptoms are:

• Growing thick hair on chest, back, chin, and stomach
• The sound is heavier
• Menstrual disorders
• Infertility

When to see a doctor

RIGHT can be known from the signs. In women, classic CAH can be identified through a physical examination by a doctor by looking at abnormalities in the baby's genitals at birth.

Meanwhile in baby boys, classic CAH can be recognized from symptoms of aldosterone deficiency, such as dehydration and below normal weight. Meanwhile, non-classical CAH symptoms usually appear at the beginning of puberty.

If your child experiences symptoms of CAH during their growth period, both classic and non-classical, contact the doctor immediately.

Diagnosis of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) can be diagnosed before the baby is born or after the baby is born. During pregnancy, CAH that occurs in the fetus can be detected through the following examinations:

• Chorionic villus sampling (CVS), by examining a sample of placental tissue or placenta at 10–12 weeks of gestation
• Amniocentesis, by examining a sample of amniotic fluid at 15–20 weeks of gestation

As previously explained, classic CAH can be detected from birth, while nonclassical CAH is usually detected at puberty. In both classic and nonclassical CAH, the doctor will initiate the diagnosis by asking questions about the symptoms and family history of the disease.

After that, the doctor will perform a thorough physical examination and detect signs of CAH in the patient. If the patient is suspected of having CAH, the doctor will perform several supporting examinations, namely:

• Blood and urine tests, to determine the levels of hormones produced by the adrenal glands
• Genetic test, to detect gene mutations that cause CAH
• Kariotype, to determine sex by analyzing chromosomes, especially in baby girls who have ambiguous genitalia
• Abdominal ultrasound, to see deformities of internal organs, such as the uterus or kidneys, if genital deformities are found
• X-ray, to see bone development

Congenital Adrenal Hyperplasia Treatment

Treatment of congenital adrenal hyperplasia depends on its type and severity. The goal of CAH treatment is to reduce excess androgen hormones and increase the hormone deficiency.

In classic CAH patients, doctors will prescribe drugs in the long term. While in nonclassical CAH, the doctor will give the following medicines if the patient has symptoms:

• Corticosteroids, to replace the hormone cortisol that is lacking in the body
• Mineralocorticoids, to replace the low aldosterone hormone and maintain s alt levels in the body
• Sodium supplements, to increase and maintain s alt levels in the body

During treatment with the above medicines, patients need to regularly check with the doctor so that their condition is always monitored. If needed, the doctor will adjust the dosage of the drugs so they don't cause side effects.

Especially for women with classical CAH who have abnormalities in the genitals, the doctor will recommend reconstructive surgery to improve the shape and function of the genitals. This action is usually done when the baby is 2–6 months old.

Congenital Adrenal Hyperplasia Complications

Patients with classic congenital adrenal hyperplasia (CAH) who do not get proper treatment can experience complications in the form of adrenal crisis. Adrenal crisis occurs due to very low levels of the hormone cortisol in the body.

Symptoms of adrenal crisis include:

• Diarrhea
• Vomiting
• Dehydration
• Low blood sugar levels (hypoglycemia)
• Shock

Adrenal crisis is an emergency that must be treated immediately. Therefore, immediately take the patient to the doctor if the above symptoms appear.

Female and male RIGHT sufferers are also at risk of experiencing infertility. This can occur due to unclear gender (ambigous genitalia) and hormonal changes. However, with proper treatment, sufferers generally can still have offspring.

Prevention of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) cannot be prevented. Efforts that can be made are to reduce the risk of complications due to this disease by detecting and treating it early.

If you have a family history of congenital adrenal hyperplasia (CAH), do a genetic consultation and examination before planning a pregnancy. This examination aims to find out how much risk CAH can be passed on to children.