Update of Thyroid Developmental Genes

• Autores: Athanasia Stoupa, Dulanjalee Kariyawasam, Aurore Carré, Michel Polak
• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 45, Nº. 2, 2016 (Ejemplar dedicado a: Pediatric Endocrinology), págs. 243-254
• Idioma: inglés
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• Resumen

  • Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine-sufficient regions and includes a spectrum of developmental anomalies. The genetic components of TD are complex. Although a sporadic disease, advances in developmental biology have revealed monogenetic forms of TD. Inheritance is not based on a simple Mendelian pattern and additional genetic elements might contribute to the phenotypic spectrum. This article summarizes the key steps of normal thyroid development and provides an update on responsible genes and underlying mechanisms of TD. Up-to-date technologies in genetics and biology will allow us to advance in our knowledge of TD.