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hrp0094fc10.4 | Thyroid | ESPE2021

Towards a novel genetic model for Congenital Hypothyroidism due to thyroid dysgenesis

Stoupa Athanasia , Jabot-Hanin Fabienne , Kariyawasam Dulanjalee , Quoc Adrien NGuyen , Hanein Sylvain , Bole-Feysot Christine , Nitschke Patrick , Polak Michel , Carre Aurore ,

Background: Congenital hypothyroidism (CH) affects one in 3000 children at birth. In 65% of cases, CH is due to thyroid dysgenesis (CHDT). For CHDT, there is a family component and therefore genetic. Over the past 20 years, disease-causing mutations in 10 genes have been implicated in CHDT cases (NKX2-1/TTF1, FOXE1/TTF2, NKX2-5, PAX8, GLIS3, NTN1/Netrin-1, JAG1, BOREALIN/CDCA8, TUBB1</...

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hrp0095fc10.1 | GH and IGFs | ESPE2022

Growth hormone and childhood-onset craniopharyngioma: When to initiate growth hormone replacement therapy?

Quoc Adrien Nguyen , Kévin Beccaria , BriceñO Laura GonzáLez , Graziella Pinto , Boustani Dinane Samara , Athanasia Stoupa , Jacques Beltrand , Alix Besançon , Caroline Thalassinos , Stéphanie Puget , Thomas Blauwblomme , Claire Alapetite , Stéphanie Bolle , François Doz , Jacques Grill , Christelle Dufour , Franck Bourdeaut , Samuel Abbou , Rousseau Léa Guerrini , Amaury Leruste , Séverine Brabant , Magali Viaud , Nathalie Boddaert , Michel Polak , Dulanjalee Kariyawasam

Objective: Craniopharyngioma is a benign brain tumour with frequent local recurrence after treatment. Growth hormone replacement therapy (GHRT) is prescribed in children with growth hormone deficiency due to childhood-onset craniopharyngioma. The objective was to evaluate whether shorter time delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of recurrence.Design: Our r...

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ESPE Abstracts

Towards a novel genetic model for Congenital Hypothyroidism due to thyroid dysgenesis

Growth hormone and childhood-onset craniopharyngioma: When to initiate growth hormone replacement therapy?

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