Congenital Adrenal Hyperplasia - Symptoms, causes and treatment

Health

Congenital adrenal hyperplasia or congenital adrenal hyperplasia (RIGHT) is a disease heredity that makes a woman's physical appearance appear more masculine ( ambiguous genitalia ). This is caused by the adrenal glands (adrenal glands) working too much.

The adrenal glands are called the adrenal glands because they are located just above the kidneys. This gland functions to produce androgen hormones that form male physical characteristics.

In congenital adrenal hyperplasia (CAH), this gland works too actively, so that the amount of androgen hormone produced becomes excessive. As a result, if it occurs in women, CAH will make the sufferer's physical appearance more masculine.

This disease can also occur in men, but the symptoms are different from the symptoms of CAH in women. In certain cases, CAH can cause babies to be born intersex.

Causes of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is caused by a genetic disorder that affects the performance of the adrenal glands. This genetic disorder is inherited and is recessive. That is, symptoms will only appear if the genetic disorder is obtained from both parents.

If a person gets a genetic disorder that causes CAH from only one parent, then he will only be a carrier (carrier), not sufferers. This person can pass the CAH to his child, even though he himself does not experience any symptoms.

This genetic disorder makes the number of cells of the adrenal glands (adrenal glands) increase. As a result, the function of the adrenal glands to produce androgen hormones will increase, so that the amount of androgen hormones produced becomes more.

CAH also affects levels of the hormone cortisol and aldosterone. However, in contrast to the increased amount of androgen hormones, the amount of cortisol and aldosterone hormones will actually decrease in CAH.

Lack of cortisol and aldosterone hormones as well as excess androgen hormones will cause symptoms of CAH in sufferers.

Symptom Congenital adrenal hyperplasia

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

There are 2 types of rights, namely classical rights and non-classical rights. Classic CAH occurs when the adrenal glands are completely unable to produce the hormones cortisol and aldosterone. While nonclassical CAH occurs when the adrenal glands can still produce the hormone cortisol, but in small amounts.

The following are the differences in symptoms between classic and nonclassical CAH, both in men and women:

Symptomcongenital adrenal hyperplasia classic

Symptoms of classic congenital adrenal hyperplasia can be detected from birth, especially in female infants. The following are classic CAH symptoms based on the sex of the sufferer:

  • Woman

    Baby girls who suffer from classic CAH have more masculine physical characteristics, so that their gender becomes unclear ( ambiguous genitalia ). This condition is characterized by enlargement of the clitoris, so it looks like a small penis.

  • Man

    In contrast to baby girls, baby boys who suffer from classic CAH look like normal babies. However, baby boys with classic CAH will have darker skin and have a penis that is larger than normal.

When entering the age of children or pre-adolescents, patients with classical CAH, both girls and boys, can experience faster body growth than other children their age. However, after entering adulthood, people with CAH will actually have a height below the average.

In addition, hair in the pubic area of ​​children with CAH will appear earlier. Children with classic CAH can also develop acne at a younger age.

In addition to causing abnormalities in physical characteristics, classical CAH can also cause disturbances in the regulation of water and salt levels in the body. This condition can occur when the sufferer is still a baby, children, or when they are adults. Symptoms that appear include:

  • Nauseous
  • Diarrhea
  • Losing weight and having a hard time gaining it back
  • Dehydration
  • Low blood pressure

Symptoms of nonclassical congenital adrenal hyperplasia

Symptoms of nonclassical CAH are milder than classic CAH. Symptoms of nonclassical CAH are rarely detected from birth, and symptoms appear more often when the sufferer enters puberty. The following are symptoms of nonclassical CAH that can appear in both men and women:

  • The growth of pubic hair at a younger age.
  • Rapid growth in childhood, but after adulthood, has a lower than normal height.
  • Obesity.

There are additional symptoms that appear in women with nonclassical CAH. These symptoms include:

  • Severe acne.
  • Grows thick hair on the chest, back, chin, and stomach.
  • The sound is heavier.
  • Menstrual disorders.

When to go to the doctor

If you know that a family member has been diagnosed with CAH, both classic and non-classical, immediately consult a doctor and your partner to undergo genetic screening for CAH. CAH screening can provide information whether your child is at risk of developing CAH or not.

In infants whose parents have never undergone the screening, CAH can be identified from the appearance of the symptoms. Classic CAH in women can usually be known after the baby is born through a physical examination by a doctor by looking at abnormalities in the genitals.

While in male infants, classic CAH can be recognized from symptoms of aldosterone deficiency, such as dehydration and below normal weight. Classic CAH in baby boys is a bit difficult to know. Likewise with non-classical CAH symptoms, which usually only appear at the beginning of puberty. If during their growth period, the child experiences classic or non-classical CAH symptoms as mentioned above, contact the doctor immediately.

Diagnosis Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) can be diagnosed through gene testing, both before and after the child is born. Gene testing before the child is born is done if both parents carry a genetic disorder that causes CAH.

Gene examination that can be done to detect congenital adrenal hyperplasia in the fetus is through the following actions:

  • Chorionic villus sampling(CVS)

    This procedure aims to take a sample of placental tissue or placenta. CVS examination is performed at 8-9 weeks of gestation.

  • Amniocentesis

    The amniotic fluid sampling procedure is performed at 12-13 weeks of gestation.

After the baby is born, the doctor will observe the physical appearance and monitor the baby's condition to detect classic CAH symptoms immediately. If it is suspected that the baby has classic CAH, the doctor will perform a supporting examination.

Nonclassical CAH is generally diagnosed later because symptoms only appear when the sufferer enters puberty. To diagnose nonclassical CAH, the doctor will first perform a physical examination, to find any abnormalities in the sufferer's body. After that, the doctor will perform a supporting examination.

Several methods of investigation to detect congenital adrenal hyperplasia or congenital adrenal hyperplasia is:

  • Inspection blood and urine

    This examination aims to determine the levels of hormones produced by the adrenal glands.

  • Inspection gender

    This examination is carried out through chromosomal analysis, especially in baby girls with confusing genital organ shapes.

  • Inspection gene

    This examination is carried out after hormonal tests, to detect genetic disorders that cause CAH.

  • abdominal ultrasound

    Abdominal ultrasound examination aims to see abnormalities in the shape of internal organs, such as the uterus or kidneys, if genital abnormalities are found.

  • Photo Rontgen

    This check is carried out forsee bone development. Patients with CAH generally have faster bone development.

Treatment Congenital adrenal hyperplasia

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

If there are no symptoms, people with non-classical CAH generally do not need treatment. However, if complaints or symptoms appear, the endocrinologist will give the following drugs to overcome them:

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

While undergoing treatment with these drugs, people with CAH need to regularly see a doctor so that their condition can be 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.

Complications of Congenital Adrenal Hyperplasia

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 an adrenal crisis include:

  • Diarrhea
  • Throw up
  • Dehydration
  • Low blood sugar levels
  • Shock

Adrenal crisis is an emergency condition that requires immediate medical attention. Therefore, immediately take the patient to the doctor if the above symptoms appear.

Patients with congenital adrenal hyperplasia, both women and men, are at risk for infertility or infertility. However, with proper treatment, most sufferers can still have offspring.