Molecular genetics of congenital hypothyroidism

Curr Opin Genet Dev. 1999 Jun;9(3):289-94. doi: 10.1016/s0959-437x(99)80043-4.


Congenital thyroid gland defects - resulting in reduced production of the hormones triiodothyronine (T3) and thyroxine (T4) - can be a consequence of either reduced or absent thyroid tissue (thyroid dysgenesis) or, less frequently, of impairment in the biochemical mechanisms responsible for hormone biosynthesis (thyroid dyshormonogenesis). Recent studies have revealed how mutations in the genes encoding either transcription factors or the thyroid stimulating hormone receptor cause, in humans or in mouse models, thyroid dysgenesis. This demonstrates, for the first time, the heritability of this condition. New genes responsible for thyroid dyshormonogenesis have also been discovered.

Publication types

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

MeSH terms

  • Animals
  • Congenital Hypothyroidism*
  • Humans
  • Hypothyroidism / genetics*
  • Mice
  • Thyroid Gland / metabolism
  • Thyroid Gland / pathology
  • Thyroid Hormones / biosynthesis


  • Thyroid Hormones

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