Previous issue | Volume 86 | ESPE2016 | Next issue

55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

Card image cap
Paris, France: 10-12 September 2016 Further information


Genetics and epigenetics of thyroid dysgenesis

hrp0086s2.1 | Genetics and epigenetics of thyroid dysgenesis | ESPE2016

Determination of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing: A Role in Thyroid Dysgenesis, Autoimmunity and Cancer

Deladoey Johnny

Background and hypotheses: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a disorder with a prevalence of one in 4,000 live births, the cause of which remains unknown. The most common diagnostic category is thyroid ectopy, which occurs in up to 80% of CHTD cases. CHTD is predominantly not inherited and has a high discordance rate (>92%) between monozygotic (MZ) twins. The sporadic nature of CHTD might be explained by somatic events such as autosomal monoalle...

hrp0086s2.2 | Genetics and epigenetics of thyroid dysgenesis | ESPE2016

Genetics of Thyroid Dysgenesis and Associated Malformations

Polak Michel

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine sufficient regions. TD includes a broad spectrum of developmental anomalies varying from absence of thyroid (athyreosis) to an abnormally located thyroid (ectopy), small (hypoplasia) or asymmetric thyroid. Thyroid dysgenesis is usually sporadic, but up to 2% of cases is familial. Genetics of TD is complex and advances in developmental biology over the past two decades revealed monogenetic f...

hrp0086s2.3 | Genetics and epigenetics of thyroid dysgenesis | ESPE2016

New Insights in Thyroid Development

Nilsson Mikael

The mammalian thyroid gland stands out in comparison to other organs as it develops from no less than three independent anlagen that originate in anterior endoderm. The median or central anlage present in the pharyngeal floor gives rise to the thyroid bud or diverticulum that provides progenitors to the thyroxin-producing follicular cells. Bilaterally, the ultimobranchial bodies bud off from the inferior-most pharyngeal pouch. Until recently those structures were considered me...