title: Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry?
abstract: 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.
authors: College of Medicine, King Saud bin Abdulaziz University for Health Sciences PO Box 3660, MC 3133, Riyadh 11481, Saudi Arabia. alwani@ngha.med.sa
authors: Ibrahim
authors: I
authors: Al-Alwan
authors: Ibrahim
authors: I
authors: Al-Alwani
authors: Ahlam
authors: A
authors: AlRowaeah
authors: Manal
authors: M
authors: Bawazeer
mesh_terms: D000293:Adolescent; D003409:Congenital Hypothyroidism / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D005500:Follow-Up Studies; D020249:Hormone Replacement Therapy / Q000379:methods*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D012042:Registries / Q000706:statistics & numerical data*; D013974:Thyroxine / Q000627:therapeutic use*
chemical_list: D013974:Thyroxine
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