title: The molecular causes of thyroid dysgenesis: a systematic review.
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.
  
  
  OBJECTIVE
  This work reviews the main steps of thyroid morphogenesis and all the genetic alterations associated with TD and published in the literature.
authors.affiliation: Department of Clinical Medicine and Surgery, University of Naples "Federico II", Via S. Pansini, 5 - 80131 Naples, Italy.
authors.forename: I C
authors.initials: IC
authors.lastname: Nettore
authors.forename: V
authors.initials: V
authors.lastname: Cacace
authors.forename: C
authors.initials: C
authors.lastname: De Fusco
authors.forename: A
authors.initials: A
authors.lastname: Colao
authors.forename: P E
authors.initials: PE
authors.lastname: Macchia
mesh_terms: D000818:Animals; D003409:Congenital Hypothyroidism / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D051379:Mice; D009687:Nuclear Proteins / Q000235:genetics; D000072636:PAX8 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D011989:Receptors, Thyrotropin / Q000235:genetics; D050033:Thyroid Dysgenesis / Q000235:genetics*; D013961:Thyroid Gland / Q000196:embryology*; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C106894:FOXE1 protein, human; D051858:Forkhead Transcription Factors; C078492:HHEX protein, human; C513080:Hhex protein, mouse; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; C000614414:Nkx2-1 protein, mouse; D009687:Nuclear Proteins; D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D051761:Paired Box Transcription Factors; C499496:Pax8 protein, mouse; D011989:Receptors, Thyrotropin; C504003:TTF1 protein, human; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors