ESPE Abstracts

Introduction: The harmfull or benefical effect of obesity on bone mineral density (BMD) is remain controversial in children and adolescence. Either increase or decrease of BMD have been reported. Several factors such as insülin resistance, prediabetes, high proportion of fat mass, sedentary lifestyle were suggested to cause the differences of BMD in obesity. FGF-21 is a metabolic factor that plays a specific role in the regulation of carbohydrate and lipi...

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

Aim: Glucose metabolism can affect by several genes, and some of them represent distictive clinical and laboratory features. tRNA methyltransferase 10 homologue A (TRMT10A) gene is a tRNA methyl transferase, and localised to the nucleolus, where tRNA modifications occur. Very recently, a novel syndrome of abnormal glucose homeostasis or nonautoimmune diabetes associated with microcephaly, epilepsy, intellectual disability, failure to thrive, delayed puberty caused by ...

Background: Treg cells are characterized by expression of Foxp3 molecule that serve as keys in the maintenance of peripheral tolerance and in controlling the immune response. The exact role of Treg cells in the pathogenesis of CAT has not been recognized yet.Objective and hypotheses: It is suggested that vitamin D is one of the factors that can regulate the function of Treg cells. In this study, the relationship between Treg cells (levels and expression)...

Background: 21-Hydroylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH) and resulted from CYP21 gene mutations. Genotype and phenotype are usually concordant. Homozygous intron 2 splice mutation (IVS2/IVS2) is frequently associated with severe enzyme deficit, and causes classical CAH. Here, we present genotype–phenotype discordant members of two different families with IVS2/IVS2 mutation.Family 1: First child of family ...

Introduction: There is a growing interest in the relationship between obesity and renal damage. Chronic kidney disease is accepted as an important complication of obesity in adulthood. However, information on association between childhood obesity and renal functions is limited. In this study, It is aimed to investigate the renal functions in obese children and adolescents.Patients and methods: We enrolled 107 obese children and adolescents as a study gro...

Introduction: Primary osteoporosis (POP) is a rare and important problem in childhood that can cause serious skeletal deformities and morbidity. In this study, we aimed to reveal the spectrum of POP in childhood, and also to assess the effectiveness and safety of bisphosphonates in increasing BMD, reducing fractures, and improving quality of life.Method: Patients with POP and who received at least one course of pamidrona...

Introduction: Parathyroid adenoma (PRAD) is less common than in adulthood, but its morbidity is higher in children. The typical presentation is incidentally discovered as asymptomatic hypercalcemia. We aimed to evaluate the clinical characteristics of PRAD and our clinical experience since the early disease is often asymptomatic.Method: From 2010-2020, all children diagnosed with PRAD at our institution ...

Background: Monogenic diabetes represents a group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes according to age of onset, with neonatal DM (<6 months of age) and maturity onset diabetes of young (MODY) (>6 months and <25 years of age); not every case can be classified into those groups.Objective and hypot...

Aim: Data on response to GH treatment in the very young children with GH deficiency is scarce. The aim of this study was to evaluate the growth response in such children in a national multicentre study and to analyse the factors affecting the growth response.Materials and methods: In this study, we retrospectively evaluated the files of GH deficiency patients who had started GH treatment between 0–3 years of age who were being followed in 14 differe...