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First published online on August 9, 2004
Endocrine Reviews, doi:10.1210/er.2003-0028
Endocrine Reviews, doi:10.1210/er.2003-0028
Endocrine Reviews 0 (2004): 200300281-
Copyright © 2004 by The Endocrine Society
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THYROID DEVELOPMENT AND ITS DISORDERS: GENETICS AND MOLECULAR MECHANISMS

Mario De Felice and Roberto Di Lauro*

Stazione Zoologica Anton Dohrn, and Department of Cellular and Molecular Biology and Pathology, University of Naples "Federico II", Italy

* To whom correspondence should be addressed.

Thyroid gland organogenesis result in an organ whose shape, size and position are largely conserved among adult individuals of the same species, thus suggesting that genetic factors must be involved in controlling these parameters. In humans the organogenesis of the thyroid gland is often disturbed, leading to a variety of conditions, such as agenesis, ectopy and hypoplasia that are collectively called thyroid dysgenesis. The molecular mechanisms leading to thyroid dysgenesis are largely unknown. Studies in murine models and in a few patients with dysgenesis revealed that mutations in regulatory genes expressed in the developing thyroid are responsible for this condition, thus showing that thyroid dysgenesis can be a genetic and inheritable disease. These studies open the way to novel working hypothesis on the molecular and genetic basis of this frequent human condition and render the thyroid an important model in the understanding of molecular mechanisms regulating the size, shape and position of organs.




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