Congenital hypothyroidism is a disease that can lead to severe mental retardation in a child. Therefore, each newborn undergoes a screening test in order to diagnose the disease as soon as possible and to be able to implement appropriate treatment. What are the causes and symptoms of congenital thyroid insufficiency? What is the therapy?

Congenital hypothyroidism (hypothyroidism)is a disease whose essence is the production of insufficient amount of thyroid hormones in utero. These hormones are necessary for the proper development of the brain of the fetus, newborn and young child, therefore their deficiency can lead to mental retardation. Therefore, in Poland, all newborns must undergo ascreening testfor congenital hypothyroidism in order to implement appropriate treatment as soon as possible.

Congenital Hypothyroidism (Hypothyroidism) - Causes

The cause of congenital hypothyroidism may be various types of thyroid gland development disorders, such as:

  • underdevelopment of the thyroid gland;
  • one lobe of the thyroid is missing;
  • ectopy - the presence of the thyroid gland in a different place than it should be, e.g. in the tongue;
  • agenesis (or aplasia) - undergrowth of the thyroid gland;

Hypothyroidism, like other diseases of this organ, is often inherited.

Another cause of congenital hypothyroidism may be inborn errors in the synthesis of thyroid hormones. This means that the thyroid gland has developed but cannot fulfill its function of synthesizing hormones. Disease can also be the result of problems with the hypothalamus or pituitary gland.

Hypothyroidism can also be a consequence of maternal thyroid disease, where some anti-thyroid medications and anti-thyroid antibodies cross the placenta. Iodine deficiency or excess in the mother's diet may also contribute to the development of this disease.

Congenital hypothyroidism (hypothyroidism) - symptoms

The first symptom of congenital hypothyroidism may be prolongedneonatal jaundice . Then you notice in the child:

  • delaygrowth;
  • delayed flail growing;
  • delayed tooth eruption;

Hypothyroidism is more common in children who have otherdefectscongenital (mainly heart) or Down syndrome.

  • weakening of the muscle tone, slowing down the child's movements;
  • dry and cool skin:
  • "spilled" (so-called frog) belly with a protruding navel;
  • big language;
  • hoarse and rough voice;
  • not prone to crying (even if it appears, it is hoarse);
  • disturbing symptoms from the digestive system - lack of appetite, constipation;
  • slow heart rate;

Congenital hypothyroidism (hypothyroidism) - diagnosis

After the newborn is 3 days old, the nurse pricks his heel and draws blood onto a tissue paper, which is then transferred to a laboratory for the evaluation of thyrotropin (TSH) concentration.A screening test for congenital hypothyroidism, performed before the baby is 3 days old, could be adulterated by the thyroid hormones given to the baby in the blood by the mother.

If the result is supplements, the child is immediately referred to the endocrinology clinic, where the endocrinologist will conduct further diagnostics. The screening test performed in a hospital is not the basis for a final diagnosis of the disease.

What if the baby is discharged from the hospital on day 2 of life? Then the parents on discharge receive a special tissue paper, on which blood should be taken during the first visit of the nurse from the clinic or go with the child to the clinic so that the nurse can take a sample for testing. Blood should be drawn before the child is 6 days old.

GOOD TO KNOW>>First TESTS of the newborn in the hospital

Congenital Hypothyroidism (Hypothyroidism) - Treatment

Treatment of congenital hypothyroidism involves the daily intake of the missing thyroid hormone (L-thyroxine). As the child grows, the dose of thyroid hormones must be changed, as it depends, among others, on on the child's weight.

Studies show that most children who receive treatment early develop well and do not have reduced intellectual abilities.

Important

Some forms of congenital hypothyroidism may be temporary. Therefore, when a child reaches the age of 2, an attempt is made to diagnose the disease again. To this end, you stop giving your baby the missing thyroid hormones for 4-6 weeks. Then tests are performedhormonal. If the TSH level is normal, it means that the disease was temporary and the drugs can be discontinued. If the test results are again abnormal, you should take L-thyroxine for the rest of your life.

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