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...

hrp0086p1-p565 | Perinatal Endocrinology P1 | ESPE2016

Different Long-term Neurodevelopmental Outcomes in Very Preterm Versus Very-low-birth-weight Infants

Hollanders Jonneke J , Schaefer Nina , van der Pal Sylvia M , Rotteveel Joost , Finken Martijn J J

Background: Birth weight (BW) is often used as a proxy for gestational age (GA) by studies on preterm birth. Recent data indicate that the terms very-low-birth-weight (VLBW; BW <1500 g) and very preterm (VP; GA <32 weeks) birth are not equivalent with regard to perinatal outcomes and postnatal growth up until final height. It is unknown whether the differences between these terms could be extended to long-term neurodevelopmental outcomes.Objectiv...

hrp0084fc10.5 | Perinatal Endocrinology | ESPE2015

Lack of Association between Transient Hypothyroxinaemia of Prematurity and Neurodevelopmental and Behavioral Outcomes in Young Adulthood

Hollanders Josephina J , Israels Joel , van der Pal Sylvia M , Rotteveel Joost , Finken Martijn J J

Background: Preterm newborns are at risk of becoming transiently hypothyroxinaemic, which has been associated with neurodevelopmental impairments in childhood. It is not known whether these associations persist into adulthood.Objective and hypotheses: We studied the relation between transient hypothyroxinaemia of prematurity and IQ, neuromotor functioning and problem behaviour at young adult age.Method: This was a prospective study...

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...

hrp0092p1-150 | Thyroid | ESPE2019

Acquired Von Willebrand's Syndrome Caused by Primary Hypothyroidism in a 5-Year-Old Girl

Flot Claire , Edouard Thomas , Tauber Maïthé , Oliver Isabelle , Claeyssens Segolene , Savagner Frederique , Caron Philippe

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...

hrp0092p2-153 | GH and IGFs | ESPE2019

Criteria for First-Year Growth Response to Growth Hormone Treatment in Prepubertal Children with Growth Hormone Deficiency: Do they Predict Final Height Outcome?

Straetemans Saartje , De Schepper Jean , Thomas Muriel , Tenoutasse Sylvie , Beauloye Véronique , Rooman Raoul , BESPEED the members of

Background/Aim: Several criteria for the first year growth response (FYGR) to growth hormone (GH) treatment have been proposed. We explored which FYGR criteria predict best the final height outcome after GH treatment in prepubertal children with GH deficiency (GHD).Methods: Height data of 129 GHD children (83 boys) treated with GH for at least 4 consecutive years with at least 1 year before pubertal onset, were retrieved...