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Mol Cell Endocrinol. 2010 Jun 30;322(1-2):64-71. doi: 10.1016/j.mce.2010.03.009. Epub 2010 Mar 17.

Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations.

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Dipartimento di Endocrinologia e Metabolismo, Centro Eccellenza AmbiSEN, Università degli Studi di Pisa, Via Paradisa 2, 56124 Cisanello, Pisa, Italy.


Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism (CH), a relatively frequent endocrine disease in newborns (1 in 3000-4000 live births). TD is a defect in the organogenesis of the gland resulting in hypoplastic, ectopic or absent-thyroid gland. TD is usually sporadic but mutations in transcription factors (PAX8, TTF1, FOXE1 and NKX2-5) involved in thyroid development have been shown to cause a minority of cases transmitted as Mendelian diseases. This review focuses on the genetics and phenomics of hypothyroidism and TD due to PAX8 and TTF1 mutations.

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