Diagnosis of congenital hypothyroidism is made in the maternity ward and, if a thyroid abnormality is identified, treatment with a hormone replacement is started shortly thereafter to avoid complications for the baby. Congenital hypothyroidism cannot be cured, but when diagnosis and treatment are early, the child can develop normally.
- Symptoms of congenital hypothyroidism are related to lower levels of T3 and T4 circulating in the baby’s body.
- Which may be observed:.
Apesar de existirem sintomas, somente cerca de 10% dos bebês que sofrem de hipotireoidismo congênito é que os apresentam, isso porque o diagnóstico é feito ainda na maternidade e o tratamento de reposição hormonal é iniciado logo em seguida, impedindo o surgimento dos sintomas.
Diagnosis of congenital hypothyroidism is made during maternity screening during neonatal screening tests, usually through the baby’s foot test, in which a few drops of blood are drawn from the baby’s heel and sent to the lab for testing. Learn more about the heel bite test.
If the heel puncture test indicates congenital hypothyroidism, the measurement of T4 and TSH hormones should be performed by a blood test to confirm the diagnosis and begin treatment. Other imaging tests, such as ultrasounds, MRIs, and thyroid scans, can also be used in diagnosis.
Congenital hypothyroidism can be caused by several situations, the main ones being:
Generally, congenital hypothyroidism is permanent, however, transient congenital hypothyroidism can occur, which can be caused by a deficiency or excess iodine of the mother or newborn or when passing through the placenta of antithyroid medications.
Transitional congenital hypothyroidism also requires treatment, but is usually discontinued at age 3, so tests can be done to evaluate circulating thyroid hormone levels and to better define the type and cause of the disease.
Treatment of congenital hypothyroidism involves replacing thyroid hormones throughout life with oral administration of a drug, sodium levothyroxine, which can be dissolved in a small amount of water or baby milk. When diagnosis and treatment are delayed, the consequences of congenital hypothyroidism, such as mental retardation and stunted growth, can occur.
It is important for the child to monitor their total and free levels of T4 and TSH so that the pediatrician can check the response to treatment. Learn more about treating hypothyroidism in the following video: