ESPE Abstracts

Background: Animal models of insulin-dependent diabetes show hyperactivity of hypothalamus–pituitary adrenal (HPA) axis, independently of hypoglycaemia. Few data exists regarding type 1 diabetes (T1D) in children.Objective: To describe HPA axis activity according to the anxiety levels in prepubertal T1D children.Method: Prepubertal T1D children and siblings of T1D children (controls) were included. State-Trait Anxiety Inventor...

Introduction: Congenital Hyperinsulinism (CHI) is a rare disease of hypoglycaemia due to excess insulin production. Patients with both focal and diffuse forms of CHI may have severe hypoglycaemia not responsive to medical therapies. Such patients require lesionectomy or subtotal pancreatectomy with a corresponding necessity for enhanced glycaemic monitoring during the peri-operative period. Subcutaneous Continuous Glucose Monitoring (CGM) provides real-time hi...

Background: The growth and IGF1 responses to GH treatment show a large variation across children with idiopathic short stature (ISS). Compliance and GH regimens are important determinants. The d3 variant of the GH receptor (GHR) is a significant genetic predictor. The role of individual epigenetics had not been studied. The IGF1 locus is an attractive candidate where CG methylation could influence GH action.Objectives: To study GH effects on a) IGF1 gene...

Background: Medullary thyroid cancer (MTC) in MEN 2A is caused by mutations in RET. Guidelines (2001/2009/2015) recommend prophylactic total thyroidectomy (TT) based on mutation specific risk levels (ATA 2015: high/moderate).Objective: The aim of this study was to analyse changes of age at TT, frequency of metastatic MTC (MMTC), and frequency of TT according to guidelines since introduction of RET testing in 1995....

Background: Short stature has several causes ranging from complex hormonal deficiencies mostly related to pituitary gland genetics, to idiopathic and environmental causes such as maternal smoking in pregnancy, etc. Floating harbor syndrome is a rare genetic disorder characterized by short stature, delayed bone age, mild to moderate mental retardation, retarded speech development, and typical facial dysmorphic features. The syndrome is caused by heterozygous mutations in exon 3...

Background: The thyroid gland is a common unintended target during and after cancer treatment in childhood cancer survivors. However, only a limited number of studies have assessed thyroid adverse events of newer or more selective anticancer drugs. The main objectives of this review are to provide an overview of thyroid disorders in children, treated with 131 I-metaiodobenzylguanidine (131 I-MIBG), tyrosine kinase inhibitors (TKIs) and immune checkpoint inhibi...

Background: Emerging evidence suggests FTO polymorphisms are associated with obesity-related comorbidities including type 2 diabetes (T2DM), hypertension and polycystic ovarian syndrome (PCOS). However association of FTO with other comorbidities such as obstructive sleep apnoea (OSA) in paediatric populations is less clear.Objective and hypotheses: To investigate the prevalence of obesity-related comorbidities according to FTO genotype in an obese paedia...

Background and aim: Metformin is widely used in Type 2 diabetes, with increasing reports of a potential bone protective role. We investigated the role of AMPK in mediating the effects of metformin on mesenchymal stem cell (MSC) differentiation to either osteoblasts or adipocytes.Methods: Confluent mouse MSCs (C3H10T1/2), wild type (WT) and AMPK knockout (KO) mouse embryo fibroblasts (MEFs) were treated with metformin(500 μM), AMPK-activator A769662(...

Background: Heterozygous mutations in the IGF1 receptor (IGF1R) are often associated with congenital IGF1 resistance, causing variable degrees of intrauterine growth retardation (IUGR) and postnatal short stature. To date, only one homozygous IGF1R mutation has been reported, in a child presenting with severe growth failure, mild intellectual impairment, microcephaly, dysmorphic features, and cardiac malformations.Objective: We now repo...

Background: Primary amenorrhoea is a rare condition characterised by absent menarche. Based on gonadotropin levels, we distinguish hyper from hypogonadotropic hypogonadism forms.Objective and hypotheses: Herein, we present a case of primary amenorrhea with hypergonadotropic hypogonadism and glomerulopathy.Method: A 27-year-old female presented for evaluation of primary amenorrhea and incomplete pubertal development. Her past medica...