Differential Diagnosis: Primary and secondary congenital hypothyroidism (CH), transient CH, thyroxine binding globulin (TBG) deficiency.
Condition Description: Lack of adequate thyroid hormone production..
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Diagnostic tests should include serum free T4 and thyroid stimulating hormone (TSH); consultant may also recommend total T4 and T3 resin uptake. Test results include reduced free T4 and elevated TSH in primary hypothyroidism. TSH is reduced or inappropriately normal in secondary (hypopituitary) hypothyroidism. Low total T4 and elevated T3 resin uptake are consistent with TBG deficiency.
Most neonates are asymptomatic, though a few can manifest some clinical features, such as prolonged jaundice, puffy facies, large fontanels, macroglossia and umbilical hernia. Untreated congenital hypothyroidism results in developmental delay or mental retardation and poor growth.