hrp0097p1-584 | Thyroid | ESPE2023

National multi-center study of reevaluation of thyroid function in premature infants of less than 32 weeks of gestation and/or less than 1500g admitted to neonatal units

Campos-Martorell Ariadna , Ares Segura Susana , J Chueca Gandulain Maria , Grau Bolado Gema , Navarro Constanza , Serrano Costa Loreto , Gale Pola Ines , Fernandez Vallespin Laura , Pellicer Casanova Laura , Montaner Ramon Alicia , Puig Amoros Elisabet , Mora Sitja Marina , Rodriguez Amparo , Casano-Sancho Paula

Preterm and low birth weight(LBW) newborns are at risk of thyroid dysfunction during a critical period for neurodevelpment and this dysfunction can be missed in congenital hypothyroidism screening program(CHSP). Consequently, reassessment of thyroid function has been promoted in neonatal units, added to CHSP.Objectives: To evaluate prevalence and risk factors of thyroid dysfunction in≤32weeksGA and/or 1500g newborn, and compare differ...

hrp0084p1-97 | Growth | ESPE2015

High Frequency of Hypomorphic Allelic Haplotypes of the gh1 Proximal Promoter in Patients with Proportional Undergrowth and Isolated GH Deficiency

Campos-Barros Angel , Gomez-Nunez Ana , Zurita-Munoz Olga , Gallego-Gomez Elena , Cruz-Rojo Jaime , Garzon Lucia , Luzuriaga-Tomas Cristina , Riano-Galan Isolina , Bezanilla-Lopez Carolina , Donate-Legaz Jose Maria , Marban-Calzon Mercedes , Ruperez Sara , Hermoso Florinda , Lara-Orejas Emma , Borras-Perez Ma Victoria , Rius-Peris Jose Manuel , Garcia-Cuartero Beatriz , Gonzalez-Casado Isabel

Background: Although isolated GH deficiency (IGHD) is one of the most frequent causes of postnatal proportional undergrowth, up to 85–90% of IGHD cases are still classified as idiopathic. On the other hand, previous reports identified up to 40 different GH1 proximal promoter haplotypes, some of which show hypomorphic effects, significantly reducing GH1 expression levels.Objective and hypotheses: To investigate the frequency of ...

hrp0095p1-171 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Predictors of surgical outcomes in boys with hypospadias

Scougall Kathryn , Bryce Jillian , Baronio Federico , L Boal Rachel , Castera Roberto , Castro Sebastián , Cheetham Tim , Correa Costa Eduardo , Darendeliler Feyza , Davies Justin , Dirlewanger Mirjam , Gazdagh Gabriella , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Herrmann Gloria , Holterhus Paul-Martin , Karagözlü Akgül Ahsen , Markosyan Renata , Nordenstrom Anna , McElreavey Kenneth , Lopes Miranda Marcio , Poyrazoglu Sukran , Russo Gianni , Schwitzgebel Valerie , Steigert Michael , Faisal Ahmed S. , K Lucas-Herald Angela

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...

hrp0092rfc10.1 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Contemporary Surgical Approach in CAH 46XX – Results from the I-DSD/I-CAH Registries

Hebenstreit Doris , Ahmed Faisal , contributing centres within the I-DSD registry and I-CAH registry on behalf of the , Springer Alexander , Krall Christoph , Krone Nils , Birkebaek Niels , Milenkovic Tatjana , Koehler Birgit , Flueck Christa , Krone Ruth , Balsamo Antonio , Rey Rodolfo , Acerini Carlo , Guven Alya , Guran Tulay , Darendeliler Feyza , Alvi Sabah , Korbonits Marta , Bonfig Walter , Correa Costa Eduardo , Ross Richard , Iotova Violeta , Konrad Daniel , Bryce Jillian , van der Grinten Hedi Claahsen , de Vries Liat

Introduction: Congenital adrenal hyperplasia (CAH) is the most common genetic condition in the spectrum of differences of sex development (DSD). Surgery in DSD is a controversial topic and there is no consensus if to perform surgery, how to perform surgery, and when to perform surgery. The current study was designed to evaluate the current practice in CAH related surgical practice in girls.Patients and Methods: All cases...

hrp0094fc1.2 | Adrenal | ESPE2021

Variation of glucocorticoid dose and biomarkers in children with congenital adrenal hyperplasia – longitudinal analysis of real world data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , van den Akker Erica LT , Aparecida Sartori Tania , Bachega Sanchez , Baronio Federico , Holtum Birkebaek Niels , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guvan Ayla , Hannema Sabine , Iotova Violeta , van der Kamp Hetty J , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Anna , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...

hrp0094p1-6 | Adrenal A | ESPE2021

International practice of therapy monitoring in congenital adrenal hyperplasia – Real World data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , Akker Erica van den , Bachega Tania Aparecida Sartori Sanchez , Baronio Federico , Birkebaek Niels Holtum , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guven Ayla , Hannema Sabine , Iotova Violeta , Kamp Hetty J van der , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Ana , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...

hrp0095fc1.4 | Thyroid | ESPE2022

Children at cardio-metabolic risk raise their circulating concentrations of TSH and free T3

Carreras-Badosa Gemma , Mas-Parés Berta , Gómez-Vilarrubla Ariadna , Puerto-Carranza Elsa , Martinez-Calcerrada Jose-María , Riera-Pérez Elena , de Zegher Francis , Ibañez Lourdes , Bassols Judit , López-Bermejo Abel

Introduction: Thyroid hormones regulate body composition and metabolism, and are among the key drivers of body growth and maturation. In children, associations of cardio-metabolic measures with the circulating prohormone thyroxine (T4) have been extensively studied, but not with active triiodothyronine (T3). In apparently healthy children, we studied whether circulating free T3 (fT3) [and its ratio with free T4 (fT3/fT4)] associates with cardio-metabolic measu...

hrp0095p1-49 | Diabetes and Insulin | ESPE2022

Impact of Metabolic-associated fatty liver disease (MAFLD) on the Cholesterol efflux capacity of High-density lipoproteins in adolescents with type 2 Diabetes

Antonio Orozco-Morales Jose , Torres-Tamayo Margarita , X. Medina-Urrutia Aida , Dies-Suárez Pilar , Méndez-Sánchez Nahum , Enrique Díaz-Orozco Luis , G. Medina-Bravo Patricia

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. T2D is associated with metabolic-associated fatty liver disease (MAFLD). High-density lipoproteins (HDLs) are lipoproteins that are believed to have atheroprotective properties that reduce the risk of cardiovascular disease (CVD). Current evidence suggests that the physicochemical and functional features of HDLs may play a key role in the pathogenesis of atherosclerosis.<...

hrp0092fc9.3 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

DNA Methylation Signatures in Placenta and Umbilical Cord: Association with Maternal Obesity

Mas-Pares Berta , Xargay-Torrent Silvia , Gomez-Vilarrubla Ariadna , Lizarraga-Mollinedo Esther , Martínez-Calcerrada Jose-María , Bonmatí-Santané Alexandra , de Zegher Francis , Ibáñez Lourdes , López-Bermejo Abel , Bassols Judit

Background and Objectives: Offspring born to obese mothers are at an increased risk of chronic disease including type 2 diabetes (T2D), obesity, hypertension, cardiovascular disease (CVD), non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). This metabolic programming is produced, in part, by epigenetic changes such us DNA methylation. We postulated that obesity exposure impacts the offspring's methylome and used an epigenomic approa...