ESPE Abstracts

Objective: The aim of this study was to investigate the effect of COVID-19 pandemic restrictions on the frequency of diabetic ketoacidosis (DKA) at the time of diagnosis in children with type 1 diabetes (T1D).Method: The medical records of children with T1D who were diagnosed between 16.03.2018 and 16.03.2022 in pediatric endocrinology clinics in Elazig province in Turkey were retrospectively reviewed for the presence of...

Background: Type 1 Diabetes (T1D) is a chronic condition characterized by the autoimmune destruction of pancreatic beta cells, leading to insulin deficiency. The honeymoon phase (HP), a period of partial clinical remission shortly after the diagnosis, presents a significant opportunity for intervention. Understanding the factors influencing the duration and onset of HP could inform treatment strategies and potentially prolong the remission period.<p class=...

In children, autoimmune thyroiditis is often diagnosed with signs and symptoms such as goiter, short stature, and constipation. Delayed diagnosis of hypothyroidism may result in atypical signs and symptoms at presentation, depending on the severity of hypothyroidism. Von Willebrand disease (vWD) is the most common bleeding disorder caused by the quantitative or qualitative deficiency of von Willebrand factor (vWF). Acquired vWD (avWD) is a disorder characterized by low levels ...

Introduction: Silver-Russell syndrome (SRS) is a rare, well-defined genetic disease characterized by intrauterine and postnatal growth retardation, short stature, triangular face, relative macrocephaly and body asymmetry. The most common molecular pathologies are loss of methylation (50%) of the imprinting center in the p15.5 region of the paternal 11th chromosome and maternal uniparental disomy of the 7th chromosome (5-10%). The IGF2 (insulin-like growth fact...

Introduction: Primary ovarian insufficiency (POI) is a condition characterized by amenorrhea with elevated FSH and LH levels as a result of ovarian dysfunction. Ovarian failure is a very rare condition in pediatric population. Genetic syndromes (Turner, Fragile X syndrome) or malignancy treatment are the main reasons. The minichromosome maintenance complex component 8 (MCM8) gene is responsible for the repair of DNA double-strand breaks;MCM8 is a rare cause of...

Introduction: Aggrecan, a chondroitin sulfate proteoglycan encoded by the ACAN gene, is an important structural component of the cartilage matrix. Variants in the ACAN gene are associated with a group of skeletal dysplasias called aggrecanopathy, which shows a broad phenotypic spectrum. It has been reported that some heterozygous variants in this gene are responsible for the etiology of familial or idiopathic short stature located at the lightest end of the sp...

Entrance: HOXA gene deletions cause an appearance characterized by short stature, mild developmental delay, characteristic face, small hands and feet, short and large thumbs, and urogenital malformations. Clinical signs may vary according to the content of the deletion region.Case: The case applied to our clinic with the complaint of short stature. It was learned that the patient was born at term 2500 gr and had bilatera...

Purpose: This study aimed to determine the prevalence and predictors of Euthyroid Sick syndrome (ESS) in pediatric intensive care, and to establish a link between thyroid function tests and mortality.Methods: Between January 2015 and March 2020, children admitted to our pediatric intensive care unit (PICU) and tested for free triiodothyronine (fT3), free thyroxine (fT4), and thyrotropin (TSH) levels were included. Patien...

Background: Metformin is a well-known biguanide approved for treatment of Type2 Diabetes. Metformin is not considered as an anti-obesity drug despite its common off-label use. Currently, there are no data regarding the profile of metformin related gastrointestinal side effects (MRGSE) in obese adolescents.Aim: To identify the frequency and time course of MRGSE in obese adolescents and assess the presence of any associati...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...