Introduction: Congenital hypothyroidism (CH), occurring in 1:3000 -1:4000 newborns, is one of the most common preventable causes of mental retardation. The majority of newborns with CH are detected by routine screening programs and treatment is promptly initiated following confirmatory thyroid function testing. Although imaging studies determining the underlying etiology do not influence the treatment decision or initial dose, they are generally recommended.
Objective: To determine the role of early thyroid imaging in infants with CH.
Methods: A retrospective study in infants with CH who were diagnosed between the years 2000 to 2012 and followed for at least two years in the Endocrine Institute at Schneider Children`s Medical Center of Israel. All patients underwent thyroid imaging.
Results: The studied cohort consisted 141 patients. Imaging studies (thyroid scan – 115, neck ultrasonography – 26) revealed: agenesis/ectopic thyroid in 41%, hypoplasia in 24%, and normal imaging/dyshormonogenesis in 35%. TSH levels at diagnosis were significantly higher, and FT4 levels lower in agenesis/ectopic thyroid (p
Conclusions: Transient and permanent congenital hypothyroidism are distinct in the perinatal period in the TSH levels at diagnosis and the thyroxin requirements throughout follow-up. Early thyroid imaging can be postponed and preformed according to clinical judgment.
