The molecular causes of thyroid dysgenesis: a systematic review

J Endocrinol Invest. 2013 Sep;36(8):654-64. doi: 10.3275/8973. Epub 2013 May 22.

Abstract

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.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Animals
  • Congenital Hypothyroidism / genetics
  • DNA-Binding Proteins / genetics
  • Female
  • Forkhead Transcription Factors / genetics
  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins / genetics
  • Humans
  • Male
  • Mice
  • Nuclear Proteins / genetics
  • PAX8 Transcription Factor
  • Paired Box Transcription Factors / genetics
  • Receptors, Thyrotropin / genetics
  • Thyroid Dysgenesis / genetics*
  • Thyroid Gland / embryology*
  • Thyroid Nuclear Factor 1
  • Transcription Factors / genetics

Substances

  • DNA-Binding Proteins
  • FOXE1 protein, human
  • Forkhead Transcription Factors
  • HHEX protein, human
  • Hhex protein, mouse
  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins
  • NKX2-5 protein, human
  • Nkx2-1 protein, mouse
  • Nuclear Proteins
  • PAX8 Transcription Factor
  • PAX8 protein, human
  • Paired Box Transcription Factors
  • Pax8 protein, mouse
  • Receptors, Thyrotropin
  • TTF1 protein, human
  • Thyroid Nuclear Factor 1
  • Transcription Factors