ESPE Abstracts

Background: Turner syndrome (TS) is a genetic disorder related to complete or partial absense of the second X chromosome. TS is characterized by short stature, multiple skeletal anomalies, gonadal failure, autoimmune diseases and multiple congenital organ anomalies. This study aimed to determine phenotype and karyotype correlation and define the frequency of associated problems in TS patients.Methods: Our retrospective s...

Donohue syndrome(DS) is a rare and often lethal autosomal recessive disease. Its prevalence is estimated less than one in a million live births. Mutations in the insulin reseptor (INSR) gene cause rare severe INSR-related insulin resistance syndromes such as DS. It is characterized by severe insulin resistance (hyperinsulinemia, fasting hypoglycemia and postprandial hyperglycemia), intrauterine and postnatal growth retardation, hypotonia, organomegaly including heart, liver, k...

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...

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...