hrp0089p1-p084 | Diabetes & Insulin P1 | ESPE2018

The Comparison of the Occurrence of Beta Cells Autoantibody and Natural Killer Cells in Patients with Type 1 Diabetes Mellitus, Their Siblings and Healthy Children

Sieniawska Joanna , Krzewska Aleksandra , Ben-Skowronek Iwona

Background: Natural killer cells are a type of cytotoxic lymphocyte critical to the innate immune system. NK cells from patients with type 1 diabetes (DM1) have numeric and functional abnormalities. However, little is known about the number of NK cells in healthy siblings of children with DM1.Objective and hypotheses: The aim of the study is to compare the population of NK cells and the correlation between NK cells and beta cells autoantibody in healthy ...

hrp0092fc14.4 | GH and IGF4 | ESPE2019

Once-Weekly TransCon hGH vs. Daily hGH in Pediatric Growth Hormone Deficiency: The Phase 3 heiGHt Trial

Vlachopapadopoulou Elpis , Aghajanova Elena , Chertok Elena , Korpal-Szczyrska Maria , Giorgadze Elene , Kovalenko Tatiana , Maniatis Aristedes , Thornton Paul , Hofman Paul , Song Wenjie , Shu Aimee , Karpf David , Beckert Michael , Leff Jonathan

Background: TransCon hGH is a sustained-release prodrug in development as a long-acting GH for children with growth hormone deficiency (GHD). TransCon hGH consists of a parent drug, growth hormone (hGH; somatropin), that is transiently bound to a carrier via a TransCon linker. The carrier extends hGH circulation time in the body and fully active hGH is released over one week at physiologic pH and temperature. Unlike other molecules in development, TransCon hGH...

hrp0086p1-p31 | Adrenal P1 | ESPE2016

Growth of Children with Congenital Adrenal Hyperplasia (CAH) During the First 2 years of Life – Data from the Duth Longitudinal Registry

Linde Annelieke van der , Roeleveld Nel , vd Akker Erika , van Albada Mirjam , Hannema Sabine , Hoorweg-Nijman Gea , vd Kamp Hetty , Finken Martijn , Odink Roelof , van Trotsenburg Paul , Verkerk Paul , Claahsen Hedi

Background: A national database has been developed to register longitudinal data from all CAH children detected through neonatal screening from 2002 onwards. So far, data from 105 children have been registered (65% of Dutch CAH patients) to evaluate treatment and long-term effects in CAH.Aims: To evaluate height and weight in relation to medication used in the first 2 years of life.Methods: Biometric data and medication dosage were...

hrp0084p2-197 | Adrenals | ESPE2015

Evaluation of Medical Treatment in the First 2 Years of Life with a New Dutch National Longitudinal Registry for Children with Congenital Adrenal Hyperplasia (CAH)

van der Linde Annelieke , van den Akker Erica , Bakker- van Waarde Willy , Hannema Sabine , Hoorweg-Nijman Gea , van de Kamp Hetty , Klink Daniel , Odink Roelof , Straetemans Saartje , van Trotsenburg Paul , Verkerk Paul , Claahsen-van der Grinten Hedi

Background: Recently, a national database has been developed to register yearly data from all children detected with CAH in the neonatal screening program from 2002 onwards. So far longitudinal data of 105 children have been registered (roughly 65% of Dutch CAH patients) to evaluate medical treatment and long-term effects in CAH. A national CAH work group developed guidelines for diagnostics and follow up in CAH.Objective and hypotheses: Aim of our curre...

hrp0095fc11.3 | Late Breaking | ESPE2022

Dasiglucagon Significantly Reduces Requirement for Intravenous Glucose in Children with Congenital Hyperinsulinism ages 7 Days to 12 Months

De Leon Diva D. , Banerjee Indraneel , M Kendall David , Birch Sune , Bøge Eva , Ivkovic Jelena , Thornton Paul S

Background: Congenital hyperinsulinism (CHI) is a rare disease affecting neonates, infants, and children. CHI is characterized by dysregulated insulin secretion resulting in severe recurrent hypoglycemia. Early treatment is necessary to limit the risk of neurologic and developmental sequelae. Current treatment options are limited and inadequate. Dasiglucagon (DASI) is a glucagon analog suitable for continuous subcutaneous infusion which has been shown to raise...

hrp0095rfc3.2 | Early Life and Multisystem Endocrinology | ESPE2022

The Hypoglycaemia Error Grid: a UK-wide Consensus on CGM Accuracy Assessment in Hypoglycaemia due to Congenital Hyperinsulinism

Worth Chris , J Dunne Mark , Salomon-Estebanez Maria , Harper Simon , W Nutter Paul , Dastamani Antonia , Senniappan Senthil , Banerjee Indraneel

Background and Objective: Continuous Glucose Monitoring (CGM) is gaining in popularity for patients with paediatric hypoglycaemia disorders such as Congenital Hyperinsulinism (CHI), but no standard measures of accuracy or associated clinical risk are available. A small number of studies have shown suboptimal accuracy of CGM in CHI but assessments have been inconsistent, incomplete and offer no measure of clinical application. Error grids that categorise clinic...

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...

hrp0095p1-113 | Growth and Syndromes | ESPE2022

Development and testing of a novel ‘GrowthMonitor’ Smartphone App for growth monitoring and the detection of growth disorders

Thaventhiran Thilipan , Orr Joanna , K. Morris Joan , Harding Vincent , Hsu Ann , Dunkel Leo , Chapple Paul , L. Storr Helen

Background: Childhood growth is an indicator of health/well-being. Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objective: Develop and test the accuracy of GrowthMonitor, an app which enables families to measure a child’s height at h...

hrp0095p1-179 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Loss of function of FIGNL1, a DNA damage response gene, is a novel cause of human ovarian dysgenesis

Florsheim Natan , Naugolny Larisa , Renbaum Paul , Lobel Orit , Y. Gold Merav , Goldberg Michal , Levy-Lahad Ephrat , Zangen David

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed in a 14.5y old Ashkenazi Jewish, non-cons...

hrp0095p1-583 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Androgen receptor activity in genital skin fibroblasts in response to dihydrotestosterone, testosterone and androstenedione using the APOD assay

Große-Schute Lea , Kulle Alexandra , Werner Ralf , Hiort Olaf , Drop Stenvert , Schweikert Hans-Udo , Holterhus Paul-Martin , Hornig Nadine

Introduction: Androgens are essential for the development of male sex characteristics. Testosterone (T) production from androstenedione (A) by the Hydroxysteroid 17-Beta Dehydrogenase 3 (HSD17B3) in gonadal Leydig cells triggers the differentiation of the Wolffian ducts into epididymis, vas deferens, seminal vesicles and the prostate. Shortly after, the virilisation of the external male genitalia starts through the conversion of T into dihydrotestosterone (DHT...