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A treatable and preventable disorder, congenital hypothyroidism (CH) is still a common cause of mental retardation. A 17-year-old Saudi boy with CH due to an ectopic thyroid gland was diagnosed by the neonatal screening program.Thyroxine replacement therapy was started for one month when the family chose to discontinue medication and follow-up. He was not then seen until 11 years of age. Thyroxine was restarted with a close follow-up, although thyroid function tests gradually improved back to normal levels, but his final height was short (159 cm) and IQ was negatively affected. Despite the diagnosis having been made at an appropriate time, patient was lost to follow up. This indicates an obvious flaw in the system for follow-up care. We recommend a registry of patients with CH to monitor their care. The aim of such a registry would be to monitor the efficiency and efficacy of neonatal screening.

Diagnosed congenital hypothyroidism with missing follow-up: Is it time for a national registry?