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

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


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.

Publication types

  • Review

MeSH terms

  • Animals
  • DNA-Binding Proteins / genetics*
  • Genotype
  • Humans
  • Hypothyroidism / genetics*
  • Mice
  • Mutation
  • PAX8 Transcription Factor
  • Paired Box Transcription Factors / genetics*
  • Phenotype
  • Thyroid Dysgenesis / genetics*
  • Transcription Factors


  • DNA-Binding Proteins
  • PAX8 Transcription Factor
  • PAX8 protein, human
  • Paired Box Transcription Factors
  • TTF1 protein, human
  • Transcription Factors