​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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• Joseph R, Lee YS, Ng SCY, Loke KY (2003). Detection through screening of maternal thyrotoxicosis induced central hypothyroidism in newborns. The Southeast Asian Journal of Tropical Medicine and Public Health, 34 Suppl 3:150-1.
• Lee YS, Loke KY, Ng SCY, Joseph R (2002). Maternal thyrotoxicosis causing central hypothyroidism in infants. Journal of Paediatrics and Child Health, 38(2):206-8.