hrp0082p2-d3-397 | Fat Metabolism & Obesity (2) | ESPE2014

Combined Evaluation of Glucose Levels at Fasting State and 1-H After Glucose Load Can Safely Predict Prediabetes in Obese Youth

Kotanidou Eleni P , Kyrgios Ioannis , Galli-Tsinopoulou Assimina

Background: According to current literature 1-h glucose ≥155 mg/dl during an oral glucose tolerance test (OGTT) is considered an independent predictor of β-cell deterioration and future progression to prediabetes in obese individuals.Objective and hypotheses: To investigate whether determination of glucose level obtained 1-h after glucose load can improve predictive ability of prediabetes.Method: Ninety-eight overweight/...

hrp0082p3-d1-625 | Adrenals & HP Axis | ESPE2014

A Pediatric Case of Cushing’s Disease Presenting with Diabetic Ketoacidosis

Catli Gonul , Tanrisever Ozgur , Sule Can P , Nuri Dundar Bumin

Background: Cushing syndrome is very rare in childhood and adolescence and often occurs with iatrogenic causes. The major cause of endogenous Cushing syndrome is Cushing’s disease, which results due to excessive ACTH secretion from pituitary cells (corticotroph adenoma).Objective and hypothesis: Cushing syndrome cases, which presented with diabetic ketoacidosis (DKA) in adulthood have been rarely reported. However, to our knowledge, there is no repo...

hrp0082p3-d2-891 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

A Novel Mutation in the NR3C2 Gene Causing Pseudohypoaldosteronism Type 1

Sertedaki Amalia , Kanaka-Gantenbein Christina , Chrousos George P

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by mineralocorticoid resistance with subsequent salt wasting, hyperkalemia, metabolic acidosis, and elevated plasma renin and aldosterone levels.Patients and methods: We report a male newborn that presented with failure to thrive and sustained hyponatremia during his early postnatal period. He was conceived after IVF (twin pregnancy) and prematurely born by cesare...

hrp0094p2-219 | Fat, metabolism and obesity | ESPE2021

What do lipids tell us about the pandemic?

Campagnoli Myrna P , Lima Eloise M R , Cavalli Luana ,

The pandemic has changed habits in families around the world. Eating habits and physical activity were directly impacted by social distance. The first year of the pandemic left its mark on children’s health. The purpose of this analysis was to evaluate the relationship between the first year of the pandemic and the serum lipid profile in children who underwent lab tests in a private laboratory in Curitiba-PR.Methods: Observational a...

hrp0089p1-p179 | Growth & Syndromes P1 | ESPE2018

Beckwith Wiedemann Syndrome: First International Consensus Regarding Diagnosis and Clinical Management

Brioude Frederic , Kalish Jennifer M. , Mussa Alessandro , C. Foster Alison , Bliek Jet , Ferrero Giovanni B. , Boonen Susanne E. , Baker Robert , Bertoletti Monica , Cocchi Guido , Coze Carole , Pellegrin Maurizio De , Hussain Khalid , Krajewska-Walasek Malgorzata , Kratz Christian P. , Bouc Yves Le , Maas Saskia M. , Ounap Katrin , Peruzzi Licia , Rossignol Sylvie , Russo Silvia , Shipster Caroleen , Skorka Agata , Tatton-Brown Katrina , Tenorio Jair , Tortora Chiara , Gronskov Karen , Netchine Irene , Hennekam Raoul C. , Prawitt Dirk , Tumer Zeynep , Eggermann Thomas , Mackay Deborah J. G. , Riccio Andrea , Maher Eamonn R.

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

hrp0095fc5.1 | Adrenals and HPA Axis | ESPE2022

Transcriptome profiling of adrenocortical tumors from children with unfavorable disease presentation.

Bueno Ana C , da Silva Jr Rui M P , Stecchini Mônica F , Cardinalli Izilda A , Junqueira Thais , A Scrideli Carlos , AF Molina Carlos , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra NZ , Brandalise Silvia R , Yunes José A , Vêncio Ricardo ZN , de Castro Margaret , Antonini Sonir R

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

hrp0089p1-p224 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

The ‘ExternalGenitaliaScore’ to Describe External Genitalia in Male and Female Infants: A Europeanmulticenter Validation Study

van der Straaten Saskia , Springer Alexander , Hebenstreit Doris , Zezic Aleksandra , Tonnhofer Ursula , Gawlik Aneta , Baumert Malgorzata , Szeliga Kamila , Debulpaep Sara , Desloovere An , Tack Lloyd , Smets Koen , Wasniewska Malgorzata , Corica Domenico , Calafiore Mariarosa Calafiore , Ljubicic Marie Lindhardt , Busch Alexander Siegfried , Juul Anders , Nordenstrom Anna , Sigurdsson Jon , Fluck Christa E , Haamberg Tanja , Graf Stefanie , Hannema Sabine E , Wolffenbuttel Katja P , Ahmed S Faisal , Cools Martine

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

hrp0097p1-101 | GH and IGFs | ESPE2023

Withdrawing growth hormone treatment at mid-puberty in idiopathic isolated growth hormone deficiency: baseline characteristics in patient-preference design study

Vliegenthart Joeri , Wit J.M. , Bakker B. , Boot A.M. , de Bruin C. , Finken M.J.J. , van der Heyden J.C. , Houdijk E.C.A.M. , van der Kamp H.J. , van Mil E.G.A.H. , Reedijk A.M.J. , Sas T.C.J. , Schott D.A. , van Setten P. , Straetemans S. , van Tellingen V. , Touwslager R.N.H. , van Trotsenburg A.S.P , Voorhoeve P.G. , van der Kaay D.C.M.

Background: The majority of children diagnosed with idiopathic isolated growth hormone deficiency (IIGHD) show a normal growth hormone (GH) secretion (assessed by GH stimulation tests) when retested at near adult height (NAH). It appears plausible that if normal stimulated GH secretion is observed in mid-puberty, continuing recombinant human GH (rhGH) treatment may only have a minor effect on NAH. The effect on NAH has never been investigated in a prospective ...

hrp0094p1-15 | Bone A | ESPE2021

Vitamin D status and guidelines in Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS)

Brighouse James Robert , Wan Mandy , Duncan Emma , Handforth Jennifer , Kenny Julia , Mughal M. Zulf , Riphagen Shelley , Theocharis Paraskevi , Cheung Moira S. ,

Introduction: Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS) was first reported by our hospital in the UK. Vitamin D3(25(OH)D) has important roles in cardiac function, immunomodulation, and inflammation. It therefore may be an important biomarker for severity in PIMS-TS, however 25(OH)D status and treatment guidance in PIMS-TS are lacking. We report serum 25(OH)D levels on admission and associations wit...

hrp0092p1-410 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Sertoli Cell Function after Chemotherapy in Boys with Hematologic Malignancies

Grinspon Romina P. , Arozarena Maria , Prada Silvina , Bargman Graciela , Sanzone María , Morales Bazurto Marjorie , Kanneman Ana , Bedecarrás Patricia , Gutiérrez Marcela , Gottlieb Silvia , Berenstein Ariel J. , Gabriela Ropelato María , Bergadá Ignacio , Aversa Luis , Rey Rodolfo A.

Introduction: Gonadotoxicity associated with chemotherapy of hematologic malignancies has been described mainly in adults, focused on the sensitivity of germ cells. Little attention has been placed on Sertoli cells during childhood and puberty, even though Sertoli cell development is essential for adult spermatogenesis.Objective: To assess function of the pituitary-testicular axis, with emphasis on Sertoli cell function,...