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Tiziana de Filippis, Federica Marelli, Maria Cristina Vigone, Marianna Di Frenna, Giovanna Weber, and Luca Persani

hypothyroidism with high TSH (>200 mU/l) and low FT 4 serum levels (0.2 ng/dl, normal range for age 1.78-4.2 ng/dl) [ 11 ]. Thyroid 99 Tc scintigraphy and US scan revealed a lingual thyroid ectopy, therefore L- T 4 replacement therapy was introduced on the 9

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Robert Opitz, Francesco Antonica, and Sabine Costagliola

might manifest as either athyreosis, thyroid ectopy, hypoplasia or hemiagenesis [ 3 , 4 ]. All these phenotypes are considered to result from defects in embryonic thyroid development. The molecular mechanisms underlying TD in human newborns, however