ESPE Abstracts

Background: Cerebral infarction (CI) is a known vascular complication following treatment of suprasellar tumors. The purpose of our study was to determine the incidence of cerebral infarction (CI) in a cohort of 244 German childhood-onset craniopharyngioma (CP) patients recruited between 2007 and 2019 with a high degree of completeness in the prospective, randomized trial KRANIOPHARYNGEOM 2007 (Clinical Trial No. NCT01272622). Up to now, risk factors for CI, i...

Purpose: MODY is a monogenic diabetes with autosomal dominant inheritance that usually occurs in adolescence or young adulthood. It constitutes 1% of diabetes cases in childhood. The diagnosis of MODY is very difficult due to genetic heterogeneity, rarity, and clinical overlap with other diabetes types. In recent years, the diagnosis of MODY has become easier with genetic developments. On the other hand, misinterpretation of results can cause confusion. In thi...

Introduction: Rabson-Mendenhall Syndrome (RMS) is an autosomal recessive, extremely rare, serious insulin resistance syndrome that occurs as a result of mutation in the insulin receptor (INSR) gene. Pathogenic variants in the INSR gene cause a broad spectrum of inherited insulin resistance syndromes. Here, a male case who presented with the complaint of diffuse acanthosis nigricans and was diagnosed with RMS is shared. Case Repor...

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...

Background: Hypotonia-Cystinuria Syndrome (HCS) is a rare autosomal recessive disease characterized by generalized hypotonia, nephrolithiasis, short stature, minor facial dysmorphism, hyperphagia, and rapid weight gain in late childhood. Microdeletion can be detected in part of the SLC3A1 and PREPL genes in these cases. Growth hormone deficiency is rarely seen in these patients and adequate growth can be achieved with growth hormone therapy.<p class="abste...

Introduction: A novel coronavirus defined as coronavirus disease 2019 (COVID-19) was first detected in China at the end of 2019 and spread rapidly all over the world. As the covid 19 pandemic has led to changes in life all over the world, the prognosis of diseases have also been affected. This study presents how early puberty has been affected during the pandemic period.Method: A total of 210 subjects; 113 individuals (9...

Background and Aims: Children with Down's syndrome (DS) are at increased risk of autoimmune conditions including type 1 diabetes (T1D), coeliac and thyroid disease. We previously examined the clinical and immunogenetic characteristics of these conditions in children with DS. An earlier age-of-onset of diabetes was observed compared with children with T1D from the general population despite having decreased frequencies of the established genetic susceptibil...

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...

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...

Polycystic ovary syndrome (PCOS) is a prevalent disorder in adolescent girls, commonly driven by hepato-visceral fat excess, usually presenting with hirsutism and menstrual irregularity, and often followed by subfertility and type 2 diabetes.We studied the miRNA profile of adolescent girls with PCOS, and the effects of randomized treatment with an oral contraceptive (OC) or with spironolactone-pioglitazone-metformin (SPIOMET, aiming at loss of hepato-vis...