ESPE Abstracts

Background and aim: Metformin is widely used in Type 2 diabetes, with increasing reports of a potential bone protective role. We investigated the role of AMPK in mediating the effects of metformin on mesenchymal stem cell (MSC) differentiation to either osteoblasts or adipocytes.Methods: Confluent mouse MSCs (C3H10T1/2), wild type (WT) and AMPK knockout (KO) mouse embryo fibroblasts (MEFs) were treated with metformin(500 μM), AMPK-activator A769662(...

Background: Hyponatremia is defined as a serum sodium level below 135 mEq/l. It is associated with increased morbidity and mortality. Hyponatremia has many causes and can be classified as acute/chronic or hypo/hypo/euvolemic. The main rule in fluid and electrolyte disorders (and especially in hyponatremia) is excluding hypothyroidism and hypocortisolism and then making the correct diagnosis. Hypothyroidism and hypocorticolism can also cause euvolemic chronic hyponatremia but t...

Introduction: Water and electrolyte disorders due to anterior and posterior pituitary deficiencies are common in children which are referred with intracranial tumors, especially arising from suprasellar and pituitary regions. But the prevelance and affecting factors of these disorders are not clear. We aimed that to determine the prevelance of postoperative water and electrolyte disorders and affecting factors in pediatric patients with intracranial tumors.<p class="abstex...

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

Background: Lipid profiles of type 1 diabetic children are influenced by age, sex, BMI- and HbA1c-values. There is a discrepancy between increased cholesterol levels and the management required. Thus, 26% of patients have dyslipidemia but only 0.4% of them receive lipid lowering medication.Objective and hypothesis: To facilitate child-specific and diabetes-related cholesterol control, we developed a monitoring algorithm derived from population-based refe...

Background: Neonatal diabetes (NDM) is defined as diabetes developing before 6 months of age, affecting one in 100 000 live births. Permanent NDM is diagnosed in the first 6 months of life with no remission. The majority have a mutation in the ATP-sensitive potassium (KATP) channel (KCNJ11 in 31%, ABCC8 in 13%). Autosomal dominant and recessive forms are described. The majority of patients with NDM caused by KATP mutations respond to sulphonylureas.<p...

Background: Exposure to non-persistent pesticides may have an effect on prenatal growth and later risk of adiposity. Prenatal pesticide exposure has been found to be associated with lower birth weight and higher body fat percentage calculated from skinfolds at age 6–11 years. Body composition measured by using DXA in children prenatally exposed to pesticides has not previously been reported.Objective and hypotheses: To study the effects of prenatal ...

Background: Endocrine disrupting chemicals (EDCs), such as phthalates and bisphenol A (BPA), have been associated with insulin resistance (IR) and type 2 diabetes (T2D) in non-pregnant adults. By contrast, recent pilot studies of pregnant women found negative associations between phthalates and blood glucose, and a lack of association with BPA. No studies have examined gestational IR or secretion in relation to EDC exposure.Objective: To confirm these re...

Background: Routine biochemical assessment in patients with congenital adrenal hyperplasia (CAH) includes measurement of serum 17 hydroxyprogesterone (17OHP), androstenedione (A4) and testosterone (T) and their metabolites in urine. Several studies have also described 11 oxygenated 19 carbon (11oxC19) steroids as a clinically relevant androgenetic source and highlighted their potential as markers for evaluation of adrenal androgen excess in patients with 21-hy...

Introduction: Premature ovarian failure (POF) is defined as ovarian failure developing before the age of 40. The etiology of genetic POF is quite heterogeneous and can be due to genetic, autoimmune, environmental, viral infections or iatrogenic causes.Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic POF cases with the gene panel based on next generation sequence analysis an...