Congenital Hypothyroidism

What is congenital hypothyroidism?

Hypothyroidism since birth is a condition in which the thyroid hormone deficiency is present at birth. The thyroid gland sits at the front of the throat, and produces a hormone (thyroid hormone) which controls metabolism (cell activity and growth).

Risks

Some children are born with a thyroid gland which does not work well. If untreated for several months after birth, this condition can lead to growth failure and permanent intellectual disability.

Symptoms

Babies with congenital hypothyroidism (hypothyroidism since birth) have feeding difficulties, prolonged newborn jaundice (yellow skin after birth), severe constipation, and tend to move less than other babies. These babies tend to not grow and develop at the same rate as other children.

Diagnosis

Diagnosis is based on the symptoms and clinical examination, and is confirmed by blood tests which measure the amount of hormone the thyroid gland is producing. In the case of newborns the test is always done as routine, and is one of the parameters evaluated in the heel prick test.

Treatment

Treatment consists of replacing thyroid hormone with medication. In many countries practices of newborn screening to detect and treat congenital hypothyroidism in the first weeks of life is done.

Other names for congenital hypothyroidism

  • underactive thyroid since birth
  • nongoitrous congenital hypothyroidism
  • thyroid hormone deficiency present at birth
  • inborn hypothyroidism
  • congenital myxedema