hrp0086fc11.2 | Thyroid | ESPE2016

Overexpression of DYRK1A Located in the Down Syndrome Critical Region, Leads to Primary Hypothyroidism in Down Syndrome through Interaction with FOXE1

Kariyawasam Dulanjalee , Carre Aurore , Rachdi Latif , Polak Michel

Background: Down Syndrome (DS) patients have a higher incidence of primary hypothyroidism. We previously demonstrated that transgenic mice overexpressing Dyrk1A had developmental (larger primary thyroids at E15.5 stage of development), morphological (disorganized follicles) and functional (significant lower plasma T4) impairments similar to DS thyroidal impairments (Endocrinology 2015). DYRK1A, localized in the DS critical region on chromosome 21, is therefore the can...

hrp0095p1-504 | GH and IGFs | ESPE2022

easypod® Augmented Reality: Usability and acceptability of a virtual reality mobile solution to support training of patients on a connected injection device

Mericq Veronica , Kariyawasam Dulanjalee , Iñiguez German , PolakVeronica Mericq Michel , Kariyawasam Dulanjalee , Iñiguez German , PolakVeronica Mericq Michel , Kariyawasam Dulanjalee , Iñiguez German , PolakVeronica Mericq Michel , Kariyawasam Dulanjalee , Iñiguez German , Polak Michel

Background: Smartphones are becoming increasingly popular and powerful across the globe, which, in turn, has provided unforeseen opportunities in the digital health space. The increased capabilities of smartphones have allowed the incorporation of Augmented Reality (AR) capabilities that merge input from their cameras with additional, augmented annotations and representations. While there has been research on the use of AR in managing paediatric diabetes,1 to ...

hrp0095p1-107 | Growth and Syndromes | ESPE2022

Identifying several patient-related factors that predicted permanent growth hormone deficiency (GHD)

Mericq Veronica , Kariyawasam Dulanjalee , Iñiguez German , Polak Michel

GHD is the most common endocrine disorder in children with short stature (~1 in 4000). Appropriate diagnosis should synthesize auxological, biochemical and neuroradiological data. However, until now there are significant controversies, especially from the laboratory interpretation. A false positive diagnosis can lead to a significant wasted expenditure and unnecessary exposure to rare potential adverse effects. Given these open issues about biochemical diagnosis of GHD in chil...

hrp0086fc11.3 | Thyroid | ESPE2016

Genetic Heterogeneity Revealed by WES in a Cohort of Patients with Brain-Lung-Thyroid Syndrome

Stoupa Athanasia , Kariyawasam Dulanjalee , Gueriouz Manelle , Malan Valerie , Fanen Pascale , Nitschke Patrick , Zarhrate Mohammed , Bole-Feysot Christine , Besmond Claude , Polak Michel , Carre Aurore

Background: Brain-Lung-Thyroid (BLT) syndrome (OMIM# 610978) is characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS), and benign hereditary chorea and is caused by thyroid transcription factor 1 (NKX2-1/TTF1) haploinsufficiency. The phenotype can be partial or complete and there is a large phenotypic variability.Objectives and hypotheses: Identify new genes in a selected group of patients presenting thyroi...

hrp0094fc4.2 | Diabetes | ESPE2021

A Randomised Controlled Cross-Over Trial of the Hybrid Closed-Loop Insulin Delivery System Diabeloop vs. Sensor-Augmented Pump Therapy in Children Aged 6-12 Years

Kariyawasam Dulanjalee , Morin Carole , Casteels Kristina , Tallec Claire Le , Sfez Annie , Godot Cecile , Huneker Erik , Garrec Nathalie , Polak Michel , Charpentier Guillaume , Franc Sylvia , Beltrand Jacques ,

Introduction: HbA1C goals are rarely achieved in children with Type 1 diabetes (T1D) except at the cost of increased hypoglycaemia episodes. The Diabeloop Hybrid Closed-Loop system improves time in range and glycemic control in adults. However, the efficacy and safety of the system had not yet been evaluated in children. Our objective was to evaluate the safety and efficiency of the Diabeloop hybrid closed-loop system in prepubescent children (DBL4K).<p cl...

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</...

hrp0089fc5.1 | Thyroid | ESPE2018

Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-Aggregation

Carre Aurore , Stoupa Athanasia , Adam Frederic , Kariyawasam Dulanjalee , Strassel Catherine , Gawade Sanjay , Szinnai Gabor , Kauskot Alexandre , Lasne Dominique , Janke Carsten , Natarajan Kathiresan , Schmitt Alain , Bole-Feysot Christine , Nitschke Patrick , Leger Juliane , Jabot-Hanin Fabienne , Tores Frederic , Michel Anita , Munnich Arnold , Besmond Claude , Scharfmann Raphael , Lanza Francois , Borgel Delphine , Polak Michel , Federation Parisienne pour le Depistage et la Prevention des Handicaps de l'Enfant FPDPHE Michel

Background: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, with an incidence of 1:3000 neonates, and one of the most frequent preventable causes of mental retardation worldwide. Most (65%) cases of primary permanent CH are due to thyroid dysgenesis (TD). However, a genetic cause is identified in less than 5% of CH due to DT.Methods: We performed WES (Whole Exome Sequencing) for siblings with childhood-onset TD and we analy...

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...

hrp0089p1-p196 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Endocrine Follow-up of Children with a History of Brain Tumour: Data from Our Large Cohort at Necker University Hospital, Paris, 2010–2015

Briceno Laura Gabriela Gonzalez , Samara-Boustani Dinane , Beltrand Jacques , Grill Jacques , Puget Stephanie , Dufour Christelle , Sainte-Rose Christian , Alapetite Claire , Pinto Graziella , Touraine Philippe , Valteau-Couant Dominique , Kariyawasam Dulanjalee , Aerts Isabelle , Beccaria Kevin , Bourgeois Marie , Roujeau Thomas , Blauwblomme Thomas , Rocco Federico Di , Thalassinos Caroline , Zerah Michel , Pauwels Christian , Brugieres Laurence , James Syril , Busiah Kanetee , Simon Albane , Bourdeaut Franck , Bolle Stephanie , Fresneau Brice , Michon Jean , Orbach Daniel , Guerrini-Rousseau Lea , Doz Francois , Polak Michel

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...

hrp0094p1-185 | Pituitary B | ESPE2021

Puberty and pituitary-gonadal axis function after treatment for a childhood brain tumor

Rosimont Manon , Kariyawasam Dulanjalee , Samara-Boustani Dinane , Giani Elisa , Beltrand Jacques , Bolle Stephanie , Fresneau Brice , Puget Stephanie , Sainte-Rose Christian , Alapetite Claire , Pinto Graziella , Piketty Marie-Liesse , Brabant Severine , Abbou Samuel , Aerts Isabelle , Beccaria Kevin , Bourgeois Marie , Roujeau Thomas , Blauwblomme Thomas , Di Rocco Frederico , Thalassinos Caroline , Zerah Michel , Pauwels Christian , Rigaud Charlotte , James Syril , Busiah Kanetee , Simon Albanne , Bourdeaut Franck , Lemelle Lauriane , Guerrini-Rousseau Lea , Orbach Daniel , Touraine Philippe , Doz Francois , Dufour Christelle , Grill Jacques , Polak Michel , G. Gonzalez Briceno Laura ,

Introduction: Primary brain tumors are the second most common childhood malignancies, with an increasing survival rate over the years. Late effects on puberty and fertility alter survivors’ quality of life.Methods: We included 204 patients diagnosed with a primary brain tumor before 18 years, followed in pediatric endocrinology at the University Hospital “Necker-Enfants Malades” in Paris between January 20...