ESPE Abstracts

Background: Congenital pituitary hormone deficiency is etiologically heterogeneous and occurs in 1:4000 live births. Of those, isolated GH deficiency (IGHD) is the most common, followed by combined pituitary hormone deficiency with or without extrapituitary anomalies.Objective and hypotheses: Description of a patient with IGHD, associated with multiple additional organ anomalies.Method: Case report, Sequencing of HESX1, SOX2</e...

Background: Germline mutations in fibroblast growth factor receptor (FGFR) genes 1–3 can cause skeletal dysplasias such as achondroplasia (ACH), which is caused primarily by a G380R substitution in FGFR3. Infigratinib (BGJ398), a potent and selective FGFR1–3 tyrosine kinase inhibitor (TKI), demonstrated preclinical efficacy at low doses in an ACH mouse model. The objective of this analysis is to evaluate dose dependency and toxicity...

Background: Non-alcoholic Fatty Liver Disease (NAFLD) is a frequent complication of obesity in both adults and children and there is an alarming increase in prevalence of both. Studying of risk factors for NAFLD in children and adolescents might help to select vulnerable groups to start an early intervention.Objectives: The aim of our study was to detect the prevalence of NAFLD in pediatric obese patients (0-18.9 years, ...

Background: The SGLT2 (Sodium-Glucose Cotransporter 2) protein is responsible for the majority of glucose reabsorption in the proximal tubule. Mutations in SLC5A2, encoding SGLT2, have been first described in 2002, leading to familial renal glucosuria (FRG). Herein we describe the clinical course of an 11-year-old boy in whom a compound heterozygous SLC5A2-mutation was detected, who presented with glucosuria and vomiting with a suspected diagnosis of diabetes....

Introduction: Diagnosis of central diabetes insipidus (CDI) remains challenging. Water deprivation test and hypertonic saline infusion, as established diagnostic tests, are mentally and physically demanding for patients. Copeptin response to arginine-stimulation and insulin tolerance test (ITT) has been shown to be a putative parameter in the diagnosis of CDI in adults, but data are lacking for children and adolescents.Methods:</...

Background: Paediatric pituitary adenomas are rare and mostly benign disorders which may secrete pituitary hormones. Prolactinomas account for half of all pituitary adenomas (PROLA), followed by non-secreting adenomas (20–40%; incidentalomas), adrenocorticotropic-hormone secreting adenomas (10–30%; ACTHA) and growth-hormone-secreting adenomas (5–15%; GHA).Methods: In this single-centre retrospective analysis clinical, biochemical and radio...

Background: Prediction of adult height is a standard procedure in pediatric endocrinology, but it is associated with considerable interrater variability.Objective and hypotheses: To compare the new adult height prediction (PAH) method by automated bone age determination (BoneXpert™) with the conventional PAH method by Bayley Pinneau (BP) based on bone age determination according to Greulich & Pyle. Furthermore, to assess measures of bone health ...

Background: MEHMO (microcephaly, epilepsy, hypogenitalism, mental retardation, obesity) is a rare disorder with X-linked inheritance. Only three families with this disorder were described previously, with the linkage to a region on X chromosome. No specific gene has been identified so far.Aims and objectives: The aim was to identify the genetic etiology in two unrelated Slovak male probands (4.5 and 1.5 years old respectively) with the clinical diagnosis...

Background: ROHHAD(NET) syndrome has been proposed as an acquired neuroimmunological dysfunction. Aim of the study is to compare the phenotype of lymphocyte subpopulations in patients vs controls and to evaluate the plasma levels of pro-inflammatory cytokines/chemokines in ROHHADNET syndrome.Patients and Methods: We included 14 patients (9F;5M), selected by clinical criteria, matched with 11 controls with simple obesity ...

Background: Central adrenal insufficiency(CAI) is a potential life-threatening condition and a prompt diagnosis represents a clinical challenge; indeed, the Insulin Tolerance Test(ITT), gold standard for CAI diagnosis, can be contraindicated in some conditions. Aims were to evaluate the diagnostic value of the ACTH low test(ACTH-LT) compared to the ITT and to identify eventual determinants(primary diagnosis, risk factors, symptoms, baseline cortisol, hypothala...