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Screening for Congenital Hypothyroidism

What is congenital hypothyroidism?

Congenital hypothyroidism is a disorder that affects infant at birth. Children born with congenital hypothyroidism have either absent, partially formed or poorly functioning thyroid gland. This result in inadequate amounts of thyroxine being produced and the child’s brain cannot develop to its full potential. Congenital hypothyroidism will cause the child to have mental and physical disability.

Data from Malaysian studies showed a local birth prevalence of 1 in 2500 to 1 in 3500. It is estimated that about 120 babies will be born with congenital hypothyroidism annually.

What causes congenital hypothyroidism?

Congenital hypothyroidism occurs when thyroid gland is not able to produce enough thyroxine hormone or not able to function well due to:

  • absence of thyroid gland
  • ectopic thyroid (not situated at the normal place)
  • dyshormonogenesis
  • thyroid hypoplasia (only part of thyroid gland is present) or small in size

What are the signs of congenital hypothyroidism?

Congenital hypothyroidism cannot be detected at birth and will not show any signs. The child is usually discovered to have signs or symptoms of congenital hypothyroidism at around 2-6 months of age.

The early signs of congenital hypothyroidism are:

  • prolonged neonatal jaundice (more than 14 days)
  • problem/difficulty in feeding
  • not active
  • constipation
  • umbilical hernia

Baby with untreated congenital hypothyroidism will develop the signs at about 3-6 months old as follows:

  • coarse facies
  • hoarse cry
  • distended abdomen
  • dry skin and hair
  • macroglossia (big tongue)
  • slow responses
  • poor growth and development
  • mental retardation

What is the test that can detect congenital hypothyroidism?

Congenital hypothyroidism can be screened using umbilical cord blood sample.

Sample will be taken from baby’s umbilical cord within half an hour of delivery.

If the umbilical cord blood sample is not taken within half an hour of birth for any reason, blood will be taken at the 5th day of life. Appointment will be given to parents for repeating blood sample.

Screening and confirmatory test for congenital hypothyroidism is available in all government hospitals .

What is the treatment for congenital hypothyroidism?

Babies detected to have congenital hypothyroidism need to be treated as early as possible. Delay in starting treatment will cause mental retardation and developmental delay.

The treatment for congenital hyothyroidism is L-thyroxine, in the form of pill, to replace the thyroxine hormone that the thyroid gland fails to produce. Doctor will start the treatment with L-thyroxine pill in an appropriate dose for the baby.

Appointment for follow-up visit will be given and it is very important so that the doctor will be able to assess the baby in terms of growth & development. Babies detected to have congenital hypothyroidism need to take L-Thyroxine life long.

Will the screening test be charged?

Screening for congenital hypothyroidism is done free in all hospitals under the Ministry of Health.

Last reviewed : 26 August 2020
Writer : Dr. Rohana bt. Ismail
Reviewer : Dr. Zainab bt. Kusiar