Congenital Hypothyroidism
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Signs & Symptoms
Congenital hypothyroidism cannot be detected by physical signs in the newly born baby. However, if the condition goes undetected and untreated, the affected baby can present with constipation, changes in appearance, delayed intellectual and development in the next few months of life.
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What causes it
The thyroid gland is an organ (in the front part of the neck) which produces thyroxine, a hormone crucial for normal growth and development in the infant.
Congenital hypothyroidism means that the hormone thyroxine is abnormally low in the newborn baby and is due to:
- Absent or abnormal position of the thyroid gland (most common cause)
- Abnormal production of thyroid hormone
- Maternal thyroid antibodies, which crosses the placenta and suppresses baby's production of thyroid hormone
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About the Condition
Congenital hypothyroidism is routinely screened for in all Singaporean babies through testing of TSH (thyroid stimulating hormone) level in the newborn's cord blood. Very high TSH level (above the normal level) suggests the diagnosis of congenital hypothyroidism. Moderately high levels of TSH or levels that return to normal range within a few days can happen to some newborns, and is not true congenital hypothyroidism. Congenital hypothyroidism happens in about 1 per 4000 babies.
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Diagnosis and Treatment Options
Newborns who have abnormally high TSH results on their cord blood will have the test repeated within the first 7 days of life. If the cord TSH level is very high, the likelihood of congenital hypothyroidism is high, and baby will immediately undergo additional tests such as a radioisotope thyroid scan, and then immediately receive treatment. Affected babies will be given the oral thyroxine as a replacement hormone to promote normal growth and development. Starting early and appropriate hormone replacement treatment is important for normal development of the child.
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Clinical Outcome
With newborn screening, early detection and appropriate therapy, babies born with congenital hypothyroidism are able to achieve normal intellect and development.
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