ESPE Abstracts

Background: Neonatal diabetes mellitus (NDM) is a form monogenic diabetes diagnosed under 6 month of age.Objective and hypotheses: To describe the clinical and molecular features of NDM patients in a Turkish cohort.Method: Fifteen patients (13M, 2F) with diabetes onset before 6 months of age were included in the study. Clinical and molecular data were evaluated retrospectively.Results: Mean age at diagnosis w...

Background: Turner syndrome (TS) is associated with increased arterial stiffness. To date, factors associated with the ontogeny of Turner arteriopathy remain unclear.Objective and hypotheses: To assess the associations of vascular biomarkers and the somatotrophic axis with arterial stiffness indices, and left heart size, in normotensive ‘dipper’ TS.Method: Sixty-one patients with uncomplicated normotentensive &#1...

Background: Short stature and gonadal dysgenesis are the main characteristics in Turner syndrome (TS). There are conflicting reports about the body proportions in TS. Some studies described a proportionate short stature, whereas others reported disproportionately short legs. It is known that body proportions are genetically controlled and are different in different populations or ethnic groups.Objective and hypotheses: To evaluate body proportions assess...

Objective: To evaluate metabolic syndrome parameters in children with premature adrenarche (PA) during presentation in prepuberty and afterwards in puberty.Methods: 54 (48 femals, six males) patients (mean age 12.5±2.4 years) diagnosed with PA and followed until puberty were included in our study; as the control group 28(22 females, six males) (age, sex, puberty matched) healthy children (mean age 13.5±2.2 years) were taken. CAH was ruled out i...

Background: The prevelance of pediatric obesity is increasing in childhood. Nonalcoholic fatty liver disease (NAFLD) is frequently associated with obesity, insulin resistance (IR), diabetes, and hypertriglyceridemia. Gut microbiota was suggested to play a role in both etiology of NAFLD and also progression to steatohepatitis. Feacal calprotectin (FCP) is a noninvasive marker of intestinal inflammation.Objective and hypotheses: To evaluate FCP and its ass...

Background: GH treatment may cause insulin resistance, which is associated with metabolic syndrome and co-morbidities.Objective and hypotheses: The aim of our study was to evaluate GH deficiency (GHD) patients on GH treatment for hyperlipidemia, insulin resistance and carotid intima media thickness (CIMT) and left ventricular global longitudinal strain (GLS) and assess cardiovascular tissue level effects of insulin sensitivity.Meth...

Background: Growth standards are important tools in the monitoring of growth. In 2006 the World Health Organization (WHO) published new growth charts based on infants and young children living in optimal conditions in six countries and proposed that these and the NCHS data on North American children be accepted as standards for children in all countries throughout the world. Studies comparing country specific standards with WHO growth charts are therefore necessary.<p clas...

Aim: Osteogenesis imperfecta (OI) is a genetic disease of extracellular matrix presenting with varying degrees of skeletal fragility. The study aims to evaluate growth and pubertal characteristics of 83 patients with OI.Materials and methods: Patients were classified according to Sillence clinical classification criteria. Demographic data, clinical findings, growth and pubertal characteristics were recorded from medical charts, retrospec...

Aim: The majority of children born small for gestational age (SGA) demonstrate spontaneous catch-up growth in height by the age of two years; however, approximately 10-15% of SGA newborns are at risk of having subnormal growth and persistent short stature (PSS).Method: We evaluated clinical, anthropometric, and laboratory characteristics of the 86 children with PSS who were born SGA.Results...

Introduction: Loss-of-function mutations in genomically imprinted MKRN3 and DLK1 genes cause familial central precocious puberty (CPP) and may result in low serum concentrations of these proteins. This study aimed to evaluate the predictive value of serum MKRN3 and DLK1 concentrations for detecting variants in related genes.Material-Method: This retrospective study included 26 girls with CPP, of which 11 were receiving G...