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

Chapter in book
Authors Mikael Nilsson
Henrik Fagman
Published in Current Topics in Developmental Biology. Volum 106. Endocrine Gland Development and Disease
Pages 123-170
ISBN 978-0-12-416021-7
Publisher Elsevier
Place of publication Burlington
Publication year 2013
Published at Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
Pages 123-170
Language en
Keywords tyreoidea, sköldkörtel, utvecklingsbiologi, missbildningar
Subject categories Biological Sciences, Basic Medicine


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 thy- roid 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 evo- lve and merge to establish the final size and shape of the gland.

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