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The molecular causes of thyroid dysgenesis: a systematic review
I C Nettore1, V Cacace, C De Fusco
1Department of Clinical Medicine and Surgery, University of Naples "Federico II", Via S. Pansini, 5 - 80131 Naples, Italy.
Background:
Congenital hypothyroidism (CH) is a frequent disease occurring with an incidence of about 1/2500 newborns/year. In 80-85% of the cases CH is caused by alterations in thyroid morphogenesis, generally indicated by the term "thyroid dysgenesis" (TD). TD is generally a sporadic disease, but in about 5% of the cases a genetic origin has been demonstrated. In these cases, mutations in genes playing a role during thyroid morphogenesis (NKX2-1, PAX8, FOXE1, NKX2-5, TSHR) have been reported.
Aim:
This work reviews the main steps of thyroid morphogenesis and all the genetic alterations associated with TD and published in the literature.
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