Congenital dysfunction (giperplaziya) adrenocortical

Congenital Adrenal Hyperplasia (CAH)

Description of congenital adrenal hyperplasia

Congenital adrenal hyperplasia (VHKN) It represents a group of hereditary diseases, which affect the adrenal glands. Adrenal glands control the growth and development of the organism. There are many types of CAH. The two most common forms:

• Классическая ВГКН – более тяжелая форма;
• Неклассическая ВГКН – легкая форма

For some patients, the disorder can be life-threatening. Fortunately, proper treatment can help people with CAH lead normal, healthy life.

Causes of congenital adrenal hyperplasia

CAH is a genetic disease and is transmitted from parent to child.

CAH symptoms related to problems in the adrenal glands. The main work of these glands is, to produce vital hormones. When CAH, there are problems in the development of these hormones:

• Кортизол – помогает организму адекватно реагировать на стресс и инфекции;
• Альдостерон – помогает организму поддерживать нормальный уровень натрия и калия.

The adrenal glands begin to produce more hormones. Это может привести к перепроизводству другого гормона – андрогена. This hormone is, boys and girls, but it is responsible for the development of male features.

The classical form of CAH include low levels of cortisol, perhaps, low levels of aldosterone, and high levels of androgen. When non-classical form of CAH adrenal glands can produce normal levels of cortisol and aldosterone, but also ultimately produce excessive androgen.

Risk factors for congenital adrenal hyperplasia

A family history of CAH will increase the chances of the child for the presence of the disease. People can be carriers of the gene CAH, but does not have the disease. In this case, if both parents have the gene CAH, the child has 25% likely to develop CAH.

Symptoms of congenital adrenal hyperplasia

Symptoms can vary depending on the type of child gender and CAH. Common symptoms include:

• Changed or unexpected features of the newborn girl, such as:
  • The unusual appearance of the genitalia in baby girls;
  • Part of the external genitalia may resemble a penis;
• The early signs of puberty in boys aged two to three years, such as:
  • Very muscular body structure;
  • The accelerated growth of the penis;
  • Growth of pubic hair;
  • Deepening of the voice;
• Excessive growth of hair on the face and / or body;
• The rapid growth in comparison with other children of comparable age (Most will stop growing sooner, than their peers);
• The complexity of fighting respiratory infections and illnesses;
• High blood pressure;
• Dehydration;
• Poor nutrition and vomiting;
• Failure to gain weight;
• Low growth;
• Severe acne.

Diagnosis of congenital adrenal hyperplasia

Testing can be done during pregnancy, immediately after birth or after the onset of symptoms.

Testing is performed during pregnancy, If the spouses have a family history of CAH. In particular, if the disease has a brother. To test can be selected by a small sample of amniotic fluid or tissue. Samples are taken in the following ways:

• Chorionic biopsy;
• Amniocentesis.

For the diagnosis of CAH in children or in the, which have not passed the screening after birth, the doctor will ask about the child's symptoms and history of his illness, perform a physical examination. The doctor may take a small amount of blood and urine tests to check hormone levels. Often this is enough, to diagnose.

If the test results are not clear, your doctor may prescribe genetic testing, which is carried out by a blood test.

Treatment of congenital adrenal hyperplasia

You and your child can be sent to a specialist. After treatment, the child can live a normal life. Treatment of congenital adrenal hyperplasia include:

Prenatal treatment

If CAH is found before birth, for the treatment can be used dexamethasone. This drug can help reduce the level of androgens and normalize the development of female genital mutilation. But he did not stop the development of CAH.

Drugs may be administered in tablet form or in liquid form and taken mother.

Medications at CAH

Most children, born with CAH need to take hormone replacement therapy drugs. These steroid drugs replace the missing hormones. Type of steroids will depend on the condition of the child. The drug also helps to slow down the production of androgens, which would reduce the development of male characteristics in girls.

These drugs can have side effects, such as the slowdown or decline in bone mass. In girls, hormonal therapy can also lead to frustration, It called Cushing's syndrome. The doctor will monitor the condition of the child and adjust as necessary, the dose of drugs.

Cortisol is needed during stressful situations and illness. If you are taking medicines, to replace cortisol, You may need extra doses of it during stressful events, for example during surgery or disease.

People with classic CAH will need to take medication throughout their lives. Some children with non-classical form of CAH medication can be discontinued during adulthood.

Changes in diet

Lack of aldosterone can cause a condition, called salt depletion. This problem of maintaining the desired amount of salt in the blood. The disorder can lead to low blood pressure and high levels of potassium in the blood. If you have a loss of salt, you can increase the amount of salt in the diet.

Surgery

The operation will help to correct unnatural shape of the genitals. She often held, when the child has reached the age 1-3 years.

Prevention of congenital adrenal hyperplasia

CAH inherited disease, for him there are no preventive measures.

If someone from your immediate family is sick CAH, Consult your doctor about genetic testing. It is important, if you are expecting or planning to have a baby.