Congenital Hypothyroidism is a condition in which a baby is born with a deficiency in the production of a 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.
Most babies with Congenital Hypothyroidism are identified early through 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, special investigations including a scintigraphy scan will need to be conducted to determine the cause.
Treatment for Congenital Hypothyroidism is administered via 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.