Know Congenital Adrenal Hyperplasia, Congenital Hormone Disorders in Children

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Medical Video: What is Congenital Adrenal Hyperplasia (CAH)?

Congenital adrenal hyperplasia is a congenital disease that occurs in the organs of the adrenal gland. The adrenal gland is a small organ located above the kidney and there is a pair in each person's body. Each adrenal gland has a very important function in producing hormones and regulating several physiological functions. Someone who has this disease will experience disorders of metabolism, endurance, reproductive hormones, and blood pressure.

Adrenal hyperplasia abnormalities cause little or no production of the hormone cortisol and aldosterone. The hormone cortisol, also known as a stress hormone, also plays a role in the process of blood sugar metabolism. While the hormone aldosterone plays a role in regulating electrolyte levels and helps kidney function.

Congenital adrenal hyperplasia or abbreviated as HAK 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 disorder. With proper handling and control, people with this disorder can still live a normal life.

Two types of congenital adrenal hyperplasia

1. Classic RIGHTS

The classic type is the most common, with physical symptoms that have begun to be seen in infancy and childhood. For example, the body is too high and the sign of puberty has appeared earlier. In this type, the adrenal gland cannot produce the hormone cortisol and aldosterone but begins to produce too many testosterone reproductive hormones.

2. Non-classical RIGHTS

This is a milder type, where physical symptoms occur at an older age as in adolescents and young adults. The body of non-classical people with HAK can still produce the hormone aldosterone, but it may be deficient in cortisol. Testosterone production is also less compared to classic HAK.

Symptoms of congenital adrenal hyperplasia

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Classic congenital adrenal hyperplasia has physical signs that have been identified since infants and children, including:

  • Greater genital; clitoral enlargement in baby girls and penis enlargement in male infants
  • Experiencing weight loss
  • It's very difficult to increase weight
  • Often vomiting without cause
  • Dehydrated
  • Growth is very fast at the age of children, but shorter height 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 can occur and show no symptoms at all, but women with this condition may experience:

  • Impaired menstrual cycle
  • The sound is too heavy
  • Have more facial hair (for example a mustache)
  • Infertile (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
  • Having acne problems
  • Have high cholesterol levels

One complication that can arise is the adrenal crisis. This event tends to be rare but very dangerous for someone who has congenital adrenal hyperplasia. This condition causes a decrease in blood pressure and blood sugar levels and experiences shock, causing death.

Beware if a person with congenital adrenal hyperplasia is dehydrated, diarrhea, and vomiting without cause.

What can parents and medical personnel do?

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Early diagnosis of this disease is important so that early treatment can be done.

Congenital adrenal hyperplasia can be detected since the baby is still in the womb by examining amniotic fluid samples from the uterus and placental cells. Whereas in babies who have been born, HAK examination in the form of a series of physical examinations, blood, and urine and genetic tests.

If congenital adrenal hyperplasia can be diagnosed when the baby is in the womb, then treatment can be done with corticosteroid hormone therapy. This is so that the baby is born with normal genital organs. However, there are side effects on pregnant women such as discomfort, increased blood pressure, and mood swing.

Lifelong treatment is recommended in classic HAK sufferers with hormone replacement therapy to relieve symptoms. This should start when the child has symptoms of early puberty. Other treatments such as the genital surgery method are specific to women so that the genital organs can be seen and function normally.

Know Congenital Adrenal Hyperplasia, Congenital Hormone Disorders in Children
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