Mechanisms of thyroid development and dysgenesis: an analysis based on developmental stages and concurrent embryonic anatomy

Curr Top Dev Biol. 2013:106:123-70. doi: 10.1016/B978-0-12-416021-7.00004-3.


Thyroid dysgenesis is the most common cause of congenital hypothyroidism that affects 1 in 3000 newborns. Although a number of pathogenetic mutations in thyroid developmental genes have been identified, the molecular mechanism of disease is unknown in most cases. This chapter summarizes the current knowledge of normal thyroid development and puts the different developmental stages in perspective, from the time of foregut endoderm patterning to the final shaping of pharyngeal anatomy, for understanding how specific malformations may arise. At the cellular level, we will also discuss fate determination of follicular and C-cell progenitors and their subsequent embryonic growth, migration, and differentiation as the different thyroid primordia evolve and merge to establish the final size and shape of the gland.

Keywords: Development; Dysgenesis; Embryonic; Endoderm; Foregut; Growth; Migration; Morphogenesis; Organogenesis; Thyroid.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Body Patterning / genetics
  • Body Patterning / physiology*
  • Cell Movement / genetics
  • Cell Movement / physiology
  • Endoderm / cytology
  • Endoderm / embryology*
  • Endoderm / metabolism
  • Gene Expression Regulation, Developmental
  • Humans
  • Models, Anatomic
  • Mutation
  • Thyroid Dysgenesis / embryology*
  • Thyroid Dysgenesis / genetics
  • Thyroid Dysgenesis / pathology
  • Thyroid Gland / cytology
  • Thyroid Gland / embryology*
  • Thyroid Gland / metabolism