hrp0097p1-91 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Short- and Long-term Outcomes of Diazoxide Unresponsive Infants with Diffuse Hyperinsulinism

Rafferty Deborah , Truong Lisa , Nedrelow Jonathan , Uffman Chip , Pugenent Burton , Sanchez Irene , Thornton Paul

Background: Severe diazoxide unresponsive hyperinsulinism (DUHI) is most often caused by autosomal recessive variants in the KATP channel genes. Because of the limited medical treatments available, many patients are treated with 98% pancreatectomy. This results in a high rate of diabetes by the age of 15 years. Many centers now try to avoid surgery to prevent the inevitable transition to post-surgical diabetes.Objectives:</strong...

hrp0097p1-367 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Changes in body composition in transgender adolescents during puberty suppression and hormone treatment

Boogers Lidewij , Reijtenbagh Sterre , Wiepjes Chantal , van Trotsenburg Paul , den Heijer Martin , Hannema Sabine

Context: Transgender adolescents can be treated with puberty suppression (PS) using GnRH agonists (GnRHa), and subsequent hormone therapy (HT). Up to this date, it has not been described at what rate body composition in transgender adolescents changes during the first years of treatment. Also, it is unknown whether Tanner stage at which treatment is initiated, might affect this treatment outcome.Methods: Transgender adol...

hrp0098fc9.2 | Sex Endocrinology and Gonads | ESPE2024

Unveiling DHT-driven Androgen Receptor target genes in genital skin fibroblasts

Sivaprasad Radhika , Händler Kristian , Balachandran Saranya , Caliebe Almuth , Spielmann Malte , Holterhus Paul-Martin , Hornig Nadine

Introduction: The Androgen Receptor (AR) is a steroid hormone receptor. Upon activation by its potent ligand, 5-alpha-dihydrotestosterone (DHT), it regulates the expression of target genes leading to the development of the outer male genitalia. Mutations in the AR gene are associated with Androgen Insensitivity Syndrome (AIS), characterized by the presence of testes and varying degrees of undervirilization of the external genitalia. Since many individ...

hrp0098fc10.1 | Multisystem Endocrine Disorders | ESPE2024

Genetic screening and tumour surveillance program outcomes in rare paediatric hereditary endocrine tumour syndromes

Oprea Alina , Izatt Louise , Ajzensztejn Michal , Snow Emma , Carroll Paul , Wei Christina

Background: Hereditary syndromic endocrine tumours are associated with significant morbidity in the paediatric population. Advances in molecular genetics enable early cascade genetic testing with early initiation of tumour screening. Controversy exists around the start age and burdens arising from screening-related harms.Objective: To describe the efficiency of the screening program for paediatric patients with genetic r...

hrp0098fc14.4 | Fetal and Neonatal Endocrinology | ESPE2024

Efficacy and Safety across Subgroups in Children with Congenital Hyperinsulinism Treated with Dasiglucagon

Banerjee Indraneel , S. Thornton Paul , Birch Sune , Boge Eva , Ivkovic Jelena , Gondolf Theis , D Leon Diva

Background: Congenital hyperinsulinism (CHI) is a rare disease affecting neonates, infants, and children caused by dysregulated insulin secretion resulting in severe recurrent hypoglycemia. Early treatment is necessary to limit the risk of neurologic and developmental sequelae. Dasiglucagon is a glucagon analog (stable liquid formulation) suitable for continuous subcutaneous infusion shown to raise blood glucose in a dose-dependent manner. Result...

hrp0098p1-182 | Pituitary, Neuroendocrinology and Puberty 3 | ESPE2024

A description of a national meeting for hypothalamo-pituitary-axis-tumours

Padraig Finn Bryan , Bosch Laura , Morillon Paul , Perelberg Daniel , Cerbone Manuela , Spoudeas Helen , Gan Hoong-Wei

Introduction: Central nervous system tumours are the second most commonly encountered malignancy in children with 35 cases/million/year (1). However, only 10% affect the suprasellar/intrasellar region, which limits experience of such cases in any one centre. Multidisciplinary team meetings (MDT) are a well-recognised approach to obtain expertise beyond a single clinical site. Such meetings are often used to support diagnosis, investigation and management resul...

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...