ESPE Abstracts

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for identifying common single nucleotide polymorphisms (SNPs) to predict positive outcomes of LSM in pediatric obesity management, defined as decrease in BMI z-score (based on IOTF).Patients/Methods: Out of 240 children with obesity (BMI>97...

Background: Research has demonstrated that technologies to support diabetes self-management for people living with diabetes can have positive effects on medical and quality of life outcomes. It also shows that there may be an additional burden of wearing and using these technologies. Both diabetes and its treatment can have significant deleterious effect on quality of life, thus it is crucial that the interaction between the technology and the user offers maximum benefit with ...

Introduction: Monogenic diabetes has been estimated to be 1 - 6% of all diabetic cases in European countries which are primarily non consanguineous populations, while the incidence in highly consanguineous areas is insufficiently defined. However, the genetic aetiology of monogenic diabetes has been shown to be widely different in areas with prevalent consanguinity compared to areas with lower rates. In this single-centre study, we aimed to evaluate the preval...

Polycystic ovary syndrome is the most common endocrinological disease in women of reproductive age. Although it is thought that pathologies such as insulin resistance, chronic low-level inflammation and hyperandrogenism are central theme of the disease, the exact pathophysiology of the disease has not been fully understood. This study’s aim is to reveal the relationship between routine endocrinological and immunological markers related to chronic inflammation, and to inv...

Introduction: There are the inconsistent data about a role cellular and humoral immunity in pathogenesis of type 1 diabetes mellitus.The aim: The aim of this research was to study features of the immune status and of the activity of metabolic enzymes in lymphocytes of blood in children with type 1 diabetes.Methods: Cellular and humoral immunity parameters were studied in 94 patient...

Introduction: Barakat Syndrome (HDR Syndrome) is characterized by hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated to deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: A 9 years old male was admitted at an emergency complaining of upper and lower limbs pain and contractures that progressed with periodic tetany...

Background: Type 1 Diabetes Mellitus children are at risk to suffer from thyroid dysfunction. The association between thyroid stimulating hormone and hemoglobin A1c is still controversy.Objective: To determine the association between thyroid stimulating hormone and hemoglobin A1c in type 1 Diabetes Mellitus children.Methods: We conducted a cross sectional study from January - June 2017 in pediatric endocrine outpatient clinic dr So...

Background: Monogenic forms of diabetes are still rare and not well understood. Their prevalence accounting for 1–4% of pediatric diabetes cases. Several genes encoding proteins important to β-cell function or regulation have been identified that lead to monogenic diabetes. However, awareness of these conditions may be lacking, and screening for them genetically is not routinely undertaken due to lack facility.Objective: To report a case diagno...

Background: Klinefelter Syndrome (KS) is the most common sex chromosome disorder in males caused by additional X chromosome. It is characterized by progressive testicular failure. KS patient usually have complete male sexual differentiation without genital ambiguity. The prevalence of KS is 1 in 660 males which only 10% are detected before or during puberty, and about two third so fall men with X-chromosome polyploidies fail to be identified during their lifetime.<p class=...

Background: Ectopic posterior pituitary gland (EPP) is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain.Objective and hypotheses: The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.Method: In the Endocrinol...