Endocrine Abstracts

Thyroid dysgenesis (comprising agenesis, hemiagenesis or ectopic localization) is the major cause of congenital hypothyroidism in humans. Recent experimental observations indicate that thyroid dysgenesis may be a polygenic disease with variable penetrance depending on genetic background. Also, thyroid dysgenesis might be one manifestation of syndromic malformations. The molecular mechanisms of thyroid dysgenesis in humans are largely unknown; so far genes encoding thyroid tran...