ESPE Abstracts

Background and Aims: HNF4A-MODY clinical expression is broad, ranging from hypoglycemic hyperinsulinism in the neonatal period and early childhood to hyperglycemia and diabetes, as insulin secretion progressively decreases in adult patients. The main objective was to clinically and molecularly characterize patients with glycemic alterations, negative autoimmunity and confirmed molecular diagnosis of HNF4A-MODY.Materials and Metho...

Introduction: 11-beta hydroxylase deficiency(11β-OHaseD) is the second frequent congenital adrenal hyperplasia(CAH) form. This study aimed to determine demographic and genetic characteristics and final height, to evaluate the long term clinical follow-up of children&/adolescents with 11β-OHaseD.Material and Methods: The study is designed as a multicenter, national, retrospective. 60 cases from 11 Pediatric ...

Background: Osteonecrosis (ON) is bone death caused by inadequate blood supply resulting in demineralization and trabecular thinning and, subsequently, mechanical failure. Although the pathophysiology of ON is not fully understood, the use of high-dose glucocorticoid (GC) is one of the triggers. Furthermore, its optimal management remains uncertain. The use of bisphosphonates (BP) for the treatment of ON has been reported, however, data on outcomes are limited...

Background: Thyroid cancers are rare in childhood. ATA guideline (Pediatric section) has been applied in daily practice since 2015. It is very significant to accurately predict the risk in the management of differentiated thyroid cancer(DTC). For this purpose, we shared our single center-20-year-experience about the follow-up features and management of childhood and adolescent thyroid cancer. We aimed to evaluate the dynamic risk stratification (DRS) and the o...

Introduction: The aim of this study was to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype with targeted next-generation sequence (NGS)analysis.Method: Patients with a clinical diagnosis of OI were included in the study. Initially, mutations in COL1A1 and COL1A2 genes which are known to be most responsible for OI were investigated. In the second step, a targeted...

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

Background: The sonic hedgehog pathway (SHH) regulates CNS development and mutations or abnormal expression of the SHH pathway genes have been identified in epithelial tumors. SHH pathway interacts with Wnt/β-catenin signalling. To date, CTNNB1/β-catenin mutations are the sole molecular abnormality found in adamantinomatous craniopharyngiomas (ACPs).Objective and Hypotheses: To analyze the expression pattern of SHH pathway genes in ACPs and its...

Context: Children with 21-hydroxylase deficiency (21OHD) require chronic glucocorticoid administration to substitute glucocorticoids and suppress adrenocorticotropic hormone-induced hyperandrogenemia. There is still no evidence about the best timing of the highest hydrocortisone (HC) dose. Administration of the highest dose in the morning aims to mimic the physiological rhythm of cortisol, while a high dose late in the evening may inhibit the early-morning inc...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) project aims to support the needs of the endocrine and bone community by facilitating the collaboration between patients, health care professionals and researchers across Europe and beyond. It is a project funded by the European Union’s health programme and is the affiliated registry of the European Reference Network for Rare Endocrine Conditions (Endo-ERN). It consists of two r...