ESPE Abstracts

ESPE Abstracts

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hrp0092fc5.4 | Thyroid | ESPE2019

Thyroid Dysgenesis: Exome-Wide Analysis Identifies Rare Variants in Genes Involved in Thyroid Development and Cancer

Larrivée-Vanier Stéphanie , Jean-Louis Martineau , Magne Fabien , Bui Helen , Samuels Mark E. , Polak Michel , Van Vliet Guy , Deladoëy Johnny

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...
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hrp0089fc5.2 | Thyroid | ESPE2018

Enrichment of Inherited Rare Variants in Non-Syndromic Congenital Hypothyroidism from Thyroid Dysgenesis Identified By Exome Sequencing: the Contribution of IKBKE to Vasculogenesis and Thyroid Development

Larrivee-Vanier Stephanie , Magne Fabien , Jean-Louis Martineau , Carre Aurore , Bui Helen , Samuels Mark E. , Polak Michel , Van Vliet Guy , Deladoey Johnny

Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,500 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polygenic inherited variants,. As this l...
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