Congenital Hypothyroidism is a category of hypothyroidism where inadequate thyroid hormone production is observed in newborn infants. It occurs when the thyroid gland does not develop normally or does not function properly before the birth of the child. It occurs in 1:2500 to 1:3000 newborns.

What is the cause of congenital hypothyroidism and how can it be diagnosed?

Congenital hypothyroidism is usually due to thyroid gland aplasia or hypoplasia. When due to hypoplasia, the thyroid appears in a different position. The disease is also caused by hormone synthesis disorders.

The diagnosis is confirmed through hormone testing. Every newborn is tested at birth by the Institute of Child Health.

What are the symptoms of congenital hypothyroidism?

Most newborns do not present with symptoms. A small percentage will exhibit some early signs such as jaundice, hypothermia, hoarse cry, swelling in the face or genitals, increased weight, lethargy or sluggishness.

How is congenital hypothyroidism treated?

The child receives oral hormone replacement therapy with levothyroxine. With regular administration, the child will develop normally. Dosage is regulated according to the age and weight of the child.

The degree of hypothyroidism, the cause, the family history and the body’s response to treatment in the early years of the child’s life will determine if the CHT is due to hereditary factors and whether the treatment will last for life. In the case of transient thyroid disorders, treatment will be stopped after three years at the discretion of the endocrinologist.