The most common finding (68 infants, 43% of cases) was a thyroid gland present in the proper location (eutopic). CH infants with eutopic glands were often associated with initial serum thyrotrophin (TSH) levels below 100 mIu/L, absence of clinical stigmata, normal growth and development, and less likelihood of requiring ongoing thyroid treatment. Diagnosis could include inborn defects in hormonogenesis, transient CH, TSH resistance, or an abnormal TSH set-point. The smaller number of infants with athyrosis (51 infants, 33%) or ectopia (38 infants, 24%) had more severe disease mandating lifetime thyroid therapy with initial TSH levels generally > 200 mIu/L, and a greater likelihood of clinical findings. Hispanic females had the highest prevalence of CH (1:1900) and were more likely to have athyrosis or ectopia. These results emphasize the diagnostic and prognostic importance of neonatal thyroid imaging studies in CH and indicate that in evaluating outcome of CH, those cases with eutopic glands should be separated from those with ectopia and athyrosis.

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