hrp0092fc4.3 | Fat Metabolism and Obesity Session | ESPE2019

Circulating Growth-and-Differentiation Factor-15 in Early Life: Relation to Prenatal and Postnatal Size

Díaz Marta , Campderrós Laura , López-Bermejo Abel , de Zegher Francis , Villarroya Francesc , Ibáñez Lourdes

Background: Growth-and-differentiation factor-15 (GDF15) is a regulator of energy homeostasis, and is used as biomarker of several pathological states.Objectives: To assess longitudinally GDF15 concentrations in a cohort of infants born either appropriate- (AGA, n=70) or small-for-gestational-age (SGA, n=33), the latter known to be at increased risk for central adiposity and metabolic alteration...

hrp0092fc4.4 | Fat Metabolism and Obesity Session | ESPE2019

The rs72613567:TA Variant in the Hydroxysteroid 17-beta Dehydrogenase 13 Gene Reduces Liver Damage in Obese Children

Sessa Anna Di , Rosaria Giuseppina , Cirillo Grazia , Marzuillo Pierluigi , Arienzo Maria Rosaria , Pedulla' Marcella , Miraglia Del Giudice Emanuele

Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition.<p...

hrp0092fc4.5 | Fat Metabolism and Obesity Session | ESPE2019

Leptin Gene Methylation Status in Egyptian Infants

Omar Omneya Magdy , Naguib Massoud Mohamed , Elwafa Reham Abo , Gerges Mary

Background: Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40–70%), the search for genetic variants contributing to susceptibility has been a challenging task. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these variants do not fully explain the heritability of obesity, other forms of va...

hrp0092fc4.6 | Fat Metabolism and Obesity Session | ESPE2019

Brain Satiety Responses to a Meal in Children Before and After Weight Management Intervention

Roth Christian L. , Melhorn Susan , Elfers Clinton , Rosalynn Mary , Rowland Maya , Grabowski Thomas , Saelens Brian , Schur Ellen A.

Family-based behavioral treatment (FBT) is the recommended intervention for children with obesity (OB). However, there is a large variability in short- and long-term treatment response and mechanisms for unsuccessful treatment outcomes are not understood. We studied brain regions involved in satiety processing in 9-11-year-old children with obesity (OB, n=54) and children with healthy weight (HW, n=22). Subjects underwent a functional magnetic resonan...

hrp0092fc5.1 | Thyroid | ESPE2019

Randomised Trial of Block and Replace Versus Dose Titration Antithyroid Drug Treatment in Children and Adolescents with Thyrotoxicosis

Wood Claire , Cole Michael , Donaldson Malcolm , Dunger David , Matthews John , Pearce Simon , Cheetham Tim

Background: First line treatment for thyrotoxicosis is thionamide (TA) antithyroid drug therapy. The TA used is usually Carbimazole in the UK. TA can be administered in a relatively large 'blocking' dose that prevents endogenous thyroid hormone synthesis, requiring thyroid hormone replacement (block and replace or BR), or in a smaller dose that renders the patient euthyroid (dose titration or DT). The American Thyroid Association (ATA) recommends DT be...

hrp0092fc5.2 | Thyroid | ESPE2019

Lower Proportion of CD19+IL-10+ and CD19+CD24hiCD27+ IL-10+, but not CD1d+CD5+CD19+CD24+CD27+ IL-10+ B Cells in Children with Autoimmune Thyroid Diseases

Stozek Karolina , Grubczak Kamil , Marolda Viviana , Eljaszewicz Andrzej , Moniuszko Marcin , Bossowski Artur

Introduction: Hashimoto's thyroiditis (HT) and Graves' disease (GD) become increasingly common in children's population. Pathogenesis of autoimmune thyroid diseases (AITD) bases on coexistence of genetic predisposition and environmental triggers which finally drive to breakdown of immune tolerance. Many mechanisms in human body moderate process of inflammation. While some of them answer for up-regulation, some agents like B regulatory lymphocytes (...

hrp0092fc5.3 | Thyroid | ESPE2019

Predominant DICER1 Mutations in Pediatric Follicular Thyroid Carcinomas

Ah Lee Young , Im Sun-Wha , Cheon Jung Kyeong , Jae Chung Eun , Ho Shin Choong , Kim Jong-II , Park Young Joo

Background: Pediatric thyroid cancer has characteristics that are distinct from adulthood thyroid cancer. Due to its very low prevalence, little is known about the genetic characteristics of pediatric follicular thyroid cancer (FTC).Methods: We investigated genetic alterations in tumor tissues from 15 patients aged < 20 years (median: 14.3 years; range: 2.4-19.0 years) using multifaceted approaches. Whole-exome seque...

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...

hrp0092fc5.5 | Thyroid | ESPE2019

Identification of TRPC4AP as a Novel Candidate Gene Causing Thyroid Dysgenesis

Eberle Birgit , Choukair Daniela , Vick Philipp , Hermanns Pia , Weiß Birgit , Paramasivam Nagarajan , Schlesner Matthias , Wiemann Stefan , Roeth Ralph , Klutmann Carina , Hoffmann Georg F. , Pohlenz Joachim , Rappold Gudrun A. , Bettendorf Markus

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...

hrp0092fc5.6 | Thyroid | ESPE2019

Homozygous Loss-of-Function Mutation in the SLC26A7 Gene Coding a Novel Iodide Transporter Causes Goitrous Congenital Hypothyroidism

Suzuki Atsushi , Ishii Jun , Yoshida Aya , Yamguchi Naoya , Tanaka Tatsushi , Aoyama Kohei , Tateyama Michihiro , Chen I-Shan , Kubo Yoshihiro , Kimura Toru , Yazawa Takuya , Arimasu Yu , Kamma Hiroshi , Saitoh Shinji , Mizuno Haruo

Introduction: Iodide transport in the thyroid is crucial for thyroid hormone synthesis. A homozygous loss-of-function mutation in the SLC26A4gene coding an iodide transporter located at the apical side in the thyroid follicular cells causes Pendred syndrome accompanied with goitrous congenital hypothyroidism (CH) and sensorineural deafness. However, about half of patients with Pendred syndrome demonstrate normal thyroid function. This indicates anothe...