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Pilot study for congenital hypothyroidism, preliminary report

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Abstract

Preliminary results of a pilot study on congenital hypothyroidism performed on 8,025 newborns in Italy over a 10-month period are reported. The determination of both T4 and TSH on dried blood, spotted on filter paper, as screening procedure at day 3–5 of life revealed three cases of primary hypothyroidism and one case of hypo-thyroxin-binding-globulinemia (hypo-TBG-emia). The diagnosis of primary hypothyroidism was established on the basis of low T4and high TSH levels in two of the three cases; in the third, with elevated TSH and normal T4 levels at screening, thyroid scintiscan showed an ectopic gland located at the base of the tongue. In the case of hypo-TBG-emia, low T4and TBG levels were associated with normal TSH values. Some cases of transient hypothyroidism were observed in premature infants.

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Sorcini, M.C., Fiore, L., Tomarchio, S. et al. Pilot study for congenital hypothyroidism, preliminary report. J Endocrinol Invest 3, 181–184 (1980). https://doi.org/10.1007/BF03348248

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