ESPE Abstracts

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...