Abstract
Serum thyroglobulin (Tg) data are presented for 47 infants with congenital thyroid disorders. Abnormal elevation of serum Tg (> 250 μg/L) occurred in 17% of the population studied, whereas values in excess of 1,000 μg/L were demonstrated in 11% of infants. The latter group includes the first report of supraphysiologic Tg elevation in an infant with thyroid gland ectopia, and the highest reported thyroglobulin level in the syndrome of generalized thyroid hormone resistance in an infant homozygous for a novel deletion in the c-erbAβ receptor. Mechanisms involved in the pathogenesis of Tg elevation are discussed. We conclude that Tg elevation in congenital thyroid disorders is more common than previously recognized, and values > 1,000 (μg/L identify infants with a spectrum of anatomic and biochemical abnormalities.
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