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General Practice 2023

Congênite hypothyroidism: what é, symptoms and treatment

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Congênite hypothyroidism: what é, symptoms and treatment
Congênite hypothyroidism: what é, symptoms and treatment

Congenital hypothyroidism is a metabolic disorder in which the baby's thyroid is not able to produce adequate amounts of thyroid hormones, T3 and T4, which can compromise the child's development and cause permanent neurological changes if not properly identified and treated.

The diagnosis of congenital hypothyroidism is made in the maternity ward and, if an alteration in the thyroid is identified, treatment is started immediately afterwards through hormone replacement to avoid complications for the baby. Congenital hypothyroidism has no cure, but when the diagnosis and treatment are made early, the child can develop normally.

Symptoms of Congenital Hypothyroidism

Congenital hypothyroidism symptoms are related to the lower levels of T3 and T4 circulating in the baby's body, which can be observed:

  • Muscular hypotonia, which corresponds to very flaccid muscles;
  • Increase the volume of the tongue;
  • Umbilical hernia;
  • Compromised bone development;
  • Difficulty breathing;
  • Bradycardia, which corresponds to the slower heart rate;
  • Anemia;
  • Excessive sleepiness;
  • Difficulty in feeding;
  • Delay in the formation of the first set of teeth;
  • Dry and inelastic skin;
  • Mental retardation;
  • Delay in neuronal and psychomotor development.

Although there are symptoms, only about 10% of babies who suffer from congenital hypothyroidism have them, because the diagnosis is made in the maternity ward and hormone replacement treatment is started soon after, preventing the appearance of symptoms.

How the diagnosis is made

The diagnosis of congenital hypothyroidism is made during maternity in neonatal screening tests, usually through the heel prick test, in which a few drops of blood are collected from the baby's heel and sent to the laboratory so that they can be analyzed. See more about the heel prick test.

If the heel prick test indicates congenital hypothyroidism, the dosage of T4 and TSH hormones must be performed through a blood test so that the diagnosis is confirmed and the treatment started. Other imaging tests, such as ultrasound, MRI, and thyroid scintigraphy, may also be used in the diagnosis.

Main causes

Congenital hypothyroidism can be caused by several situations, the main ones being:

  • No or incomplete formation of the thyroid gland;
  • Irregular formation of the thyroid gland;
  • Defects in thyroid hormone synthesis;
  • Injuries to the pituitary or hypothalamus, which are two glands in the brain responsible for the production and regulation of hormones.

Congenital hypothyroidism is usually permanent, however, transient congenital hypothyroidism can occur, which can be caused by insufficient or excess iodine from the mother or newborn, or by passage through the placenta of antithyroid medications.

Transient congenital hypothyroidism also requires treatment, but it is usually suspended at 3 years of age, so that tests are carried out to evaluate the levels of circulating thyroid hormones and so that the type and cause can be better defined. of the disease.

Treatment for congenital hypothyroidism

Treatment for congenital hypothyroidism consists of replacing thyroid hormones throughout life through the oral administration of a drug, Levothyroxine sodium, which can be dissolved in a small amount of water or baby's milk. When diagnosis and treatment are made late, the consequences of congenital hypothyroidism, such as mental retardation and growth retardation, can occur.

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