ESPE Abstracts

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...

Background: Achondroplasia (ACH) is the most common skeletal dysplasia with an incidence of 1/20,000. Acanthosis nigricans (AN) is commonly seen in conditions associated with reduced insulin sensitivity. AN has been reported in association with skeletal dysplasias due to activating mutations in FGFR3, including ACH.Objective: Our aim was to evaluate insulin sensitivity and glucose metabolism in patients with ACH carrying...

Background: Monogenic defects are among the significant causes of early-onset non-syndromic severe obesity in childhood. Identifying the genetic cause of obesity can guide for treatment. The aim of our study is to investigate the clinical and biochemical features of patients with early-onset severe obesity and evaluate the underlying molecular diagnosis.Materials and Methods: A total of 39 patients (M/F: 22/17) with non-...

Background: Genetic factors play an important key role in regulating the timing of puberty. The premature activation of pulsatile release of gonadotropin-releasing hormone(GnRH) before 8 and 9 years of age in girls and boys causes central precocious puberty(CPP). Pathogenic variants in DLK1 are associated with isolated familial CPP. Here, we report three siblings with a diagnosis of CPP with novel variant in DLK1.Case Report:</st...

Background: Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 46, XY DSD remain unknown in most of the casesAim: To identify genetic defects in patients with 46,XY DSD.Material and Methods: A total 76 DSD patie...

Context: There is a limited data from large cohorts regarding pubertal characteristics of children with classical 21-hydroxylase deficiency(21OHD).Objective: To explore the timing and tempo of puberty, and pubertal height gain(PHG) in children with 21OHD-CAH.Design: A multicenter observational, retrospective, longitudinal analysis.Patients: D...