The molecular causes of thyroid dysgenesis: a systematic review.

  title={The molecular causes of thyroid dysgenesis: a systematic review.},
  author={Immacolata Cristina Nettore and Vincenzo Cacace and Carmen De Fusco and Annamaria Colao and Paolo Emidio Macchia},
  journal={Journal of endocrinological investigation},
  volume={36 8},
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… CONTINUE READING
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