ESPE Abstracts

Introduction: Treatment adherence is crucial for the success of Growth Hormone (GH) therapy. Non-adherence rates have varied over a wide range from 5% to 80% in the literature. Several factors may have an impact on treatment adherence. Besides, with the COVID-19 pandemic that affected the whole world, there were problems with the hospital admission and routine controls of the patients who used GH treatment.Objective: The...

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...

Background: Approximately one-third of the central precocious puberty (CPP) cases have familial transitions. Although more than 30 genes related to puberty have been reported to date, only a few (KISS1, KISS1R, MKRN3, DLK1 and PROKR2) were associated with CPP. This study aims to reveal the associated sequence variants of MKRN3 and DLK1 genes in cases with familial CPP and their etiology.Method:...

Background: Melanocortin receptor 2 (MC2R) is expressed in the adrenal cortex and has a major role in the control of the hypothalamic-pituitary-adrenal axis. It is reported that the ACTH receptor MC4R has an impact on premature adrenarche. The melanocortin signaling system is reported to have leptin mediated effect on the regulation of GnRH neuron activity and has an important role in the onset of puberty and fertility.Objective:...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis.Aim: The purpose of this study was to investigate genotype-phenotype correlation, clinical findings and long-term outcomes in patients with CAH due to 11β-hydroxylase deficiency (11β-OHD) and 21-hydroxylase deficiency (21-OHD).Paients and methods...

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: 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...

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe prenatal and postnatal growth retardation caused by mutations in CUL7,OBSL1 or CCDC8.Clinical characteristics include dysmorphic facial features and skeletal abnormalities.Aim: Evaluation of clinical and molecular findings and the effect of growth hormone (GH) threrapy in seven patients with 3-M syndrome from five different familie...