Congenital Hypothyroidism is a condition in which a baby is born with a deficiency in the production of thyroid hormone called thyroxine. It occurs in approximately 1 in every 3,000 live births1. The thyroid gland is a butterfly-shaped gland in the neck which produces thyroxine. Thyroxine is essential for the normal growth and development of a child. Congenital Hypothyroidism can cause poor growth and affect the brain development in babies if it is not detected and treated early.
Congenital Hypothyroidism is mainly due to a defect in the development of the thyroid gland. This leads to an absent or poorly developed thyroid gland or an abnormal position of the gland. In other cases, the thyroid gland has developed normally but is unable to produce enough thyroxine because of the lack of certain enzymes.
These two cases may either be due to genetic reasons or have no identifiable cause.
Most babies with Congenital Hypothyroidism are identified early through the compulsory newborn screening before they develop symptoms. However, if the diagnosis is delayed, the affected baby can present with constipation, excessive sleepiness, poor feeding and prolonged jaundice. If Congenital Hypothyroidism is diagnosed later in life, the child will be short, overweight and have intellectual impairment.
All newborns in Singapore are tested for Congenital Hypothyroidism by their umbilical cord blood Thyroid-Stimulating Hormone (TSH) level. If cord blood TSH level is high, they undergo a repeat confirmatory blood test of TSH and thyroid hormone levels. If the blood test shows a high TSH level, which confirms the diagnosis of Congenital Hypothyroidism, they will require special investigations including a scintigraphy scan to determine the cause.
Treatment for Congenital Hypothyroidism is administered with an oral replacement of thyroxine tablets once a day. The dose of thyroxine will be adjusted as the child grows and based on the blood test results.
Parents should contact a paediatrician specialising in endocrinology for the management and follow-up of a child with Congenital Hypothyroidism.
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