hrp0094p2-304 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Impact of estrogen therapy on pubertal growth in Turner syndrome

Trouvin Marie-Agathe , Thomas-Teinturier Cecile , Bouvattier Claire , Duranteau Lise , Linglart Agnes ,

Short stature and hypogonadism are frequent symptoms in Turner syndrome (TS). In most cases, puberty must be induced but pubertal induction modalities are not consensual. Moreover, pubertal induction impact on final height and pubertal growth spurt has not been studied in depth. Our aim was to study factors influencing final height during pubertal induction in TS. Retrospective cohort of 45 TS girls followed in a single center: Bicetre hospital. We recorded auxological paramet...

hrp0097p1-274 | Fat, Metabolism and Obesity | ESPE2023

Breakfast skipping is associated with poor diet quality in children with overweight/obesity

Androutsos Odysseas , Tsiampalis Thomas , Georgiou Alexandra , Manou Maria , I. Kosti Rena , Charmandari Evangelia

Introduction: Daily breakfast consumption is recommended as part of a healthy lifestyle in children and adolescents. The present study aimed to report the frequency of breakfast consumption and explore the associations between breakfast consumption and diet quality in children with overweight/obesity.Methods: In total, 1335 children/adolescents 2-18 years old were recruited in a weight-management out-patient clinic in th...

hrp0097p1-277 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Severe neonatal hypoglycemia ≤30 mg/dl is associated with adverse neurodevelopment in mid-childhood

Roeper Marcia , Hoermann Henrike , Koerner Lisa , Mayatepek Ertan , Kummer Sebastian , Meissner Thomas

Introduction: Neonatal hypoglycemia (NH) affects about 15% of all neonates and about 50% of neonates born with risk factors, including maternal diabetes, large- or small for gestational age, or prematurity. Although it is known that hypoglycemia in congenital hyperinsulinism can lead to brain injury, it is still not clear to what extent transitional NH is tolerated during the first days of life without brain damage. Thus, treatment thresholds and management st...

hrp0097p1-285 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Severe Neonatal Donohue Syndrome: Extreme Hyperinsulinemia, Progressive Hypertrophic Cardiomyopathy (HCM) and Failure to Thrive

Lämmer Constanze , Langer Johanna , de Potzolli Brigitte , Liebl Stefanie , M.K. Völkl Thomas

Introduction: Donohue syndrome (DS) is presenting as the most severe form of insulin resistance. Most of the patients are dying within the first two years of life. As potential treatment has been described the administration of rhIGF1 (Mecasermin) to stimulate the pathway of insulin-like action. An improved metabolic control was reported with continuous subcutaneous administration of rhIGF1 instead of twice daily injections [Plamper 2018].<p class="abstext...

hrp0097p2-156 | Adrenals and HPA Axis | ESPE2023

Aldosterone deficiency and resistance: The different faces of renal salt loss

Laurer Elisabeth , Tischlinger Katharina , Montero-Lopez Rodrigo , Blaschitz Alexandra , Wimleitner Marlene , Hoertenhuber Thomas , Hoegler Wolfgang

Introduction: Heritable conditions causing aldosterone deficiency (hypoaldosteronism) or target-organ resistance (pseudohypoaldosteronism, PHA) can lead to life-threatening salt-wasting crises in early life. Prompt evaluation and correct interpretation of aldosterone and renin are crucial to guide differential diagnosis and further testing. Here we report on the similarities and differences of two neonates presenting with salt-wasting: Patient (P1) due to PHA ...

hrp0097p2-284 | Late Breaking | ESPE2023

A new approach to estimate bone mineral density in pediatric subjects: Radiofrequency ecographic multi spettrometry (REMS). A comparison with DEXA.

Zoller Thomas , Pietrobelli Angelo , Ferruzzi Alessandro , Gatti Davide , Arrigoni Marta , Munari Stefania , Cavarzere Paolo , Antoniazzi Franco

Introduction: Limitations of the available imaging technique led the introduction of a new quantitative approach ultrasound-based for assessment of bone tissue in pediatric subjects. This new methodology use data from unfiltered radio frequency signals, collected during ultrasonographic acquisition of bone district of interest to estimate the bone mineral density. Advantages of this new technique include absence of radiation exposure, low cost of management an...

hrp0089rfc11.4 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

A New Form of Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused By Abolished Store-Operated Ca2+ Entry

Cuk Mario , Lian Jayson , Kahlfuss Sascha , Kozhaya Lina , Vaeth Martin , Rieux-Laucat Frederic , Picard Capucine , Benson Melina J , Jakovcevic Antonia , Bilic Karmen , Martinac Iva , Stathopulos Peter , Kacskovics Imre , Vraetz Thomas , Speckmann Carsten , Ehl Stephan , Issekutz Thomas , Unutmaz Derya , Feske Stefan

Calcium signaling is fundamental to many cellular processes. An important pathway for increasing intracellular Ca2+ levels is store-operated Ca2+ entry (SOCE) regulated by stromal interaction molecule (STIM1-2), and Ca2+ channels formed by ORAI1-3 proteins. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. We present patients with Anhidrotic Ectodermal Dyspl...

hrp0095rfc6.3 | Sex Development and Gonads | ESPE2022

Reference intervals of serum estradiol during childhood: comparing and reviewing five studies, effects of gender and age

Lamprecht Tabea , Reinehr Thomas , Kleber Michaela , Rothermel Juliane , Schulz Esther , Simic-Schleicher Gunter , Heger Sabine , Holterhus Paul-Martin , Kulle Alexandra

Background: Specific measurement of low serum / plasma concentrations of 17β-estradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. However, there is still a gap in available reference intervals (RIs) for E2 in paediatrics. The study was partially funded by the German Ministry of Health, grant number 2519FSB503.Objective: First, we technically developed a highly sensit...

hrp0095p1-115 | Growth and Syndromes | ESPE2022

Validation of referral criteria for growth monitoring in Flanders based on height at the start of GH therapy in children with growth hormone deficiency and Turner syndrome

Klink Daniel , Logghe Karl , Thomas Muriel , Roelants Mathieu , Van Hoeck Katelijne , Lysy Philippe , Becker Marianne , Staels Willem , de Schepper Jean

Background/Aims: Length and weight of all children in Flanders are monitored every three years at school from the age of 3 years. The current criteria used for referral to specialized care are: height SDS < -2.5, height SDS between -2 and -2.5 SDS with a height SDS adjusted for parental height < -1.64, or a decrease in height SDS of more than 1 SDS in the past 3 years. The aim of this study is to investigate the sensitivity of the Flemish referral criter...

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...