ESPE Abstracts

Background: Fractures are common in children, but a significant fracture history, defined as low-trauma vertebral fractures or multiple long bone fractures, is rare. Children with such history and no osteogenesis imperfecta (OI) are often presumed to have another Mendelian disease. However, in adults, multiple common risk alleles of small effect influence risk of fracture. We tested if subjects with a significant childhood fracture history have an increased bu...

Introduction: The degree of consistency between the findings from next generation sequencing (NGS) and detailed endocrine assessment is unclear in boys with XY DSD.Objectives: Examine the range of endocrine and molecular genetic variation in boys undergoing evaluation for XYDSD.Methods: Boys with XYDSD who were evaluated in Glasgow from 2016 to 2018 were included. Sequence variants...

Background: Leptin, primarily secreted by adipocytes, is a pivotal signal of the body's energy status and exhibits pleiotropic effects. Homozygous mutations in the leptin gene which result in defective synthesis, release or bioactivity, cause intense hyperphagia and early-onset severe obesity, along with multiple metabolic, hormonal, and immunological abnormalities. In vitro and animal model studies suggest that leptin plays a role in linear growth. So far...

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

Objective: Type 1 diabetes in childhood is associated with an increased risk of psychiatric morbidities. We investigated predictors and diabetes outcomes in a pediatric population with psychiatric comorbidities.Research Design and Methods: Nationwide pediatric registerbased study. Data from the Danish national childhood diabetes register (DanDiabKids) and The National Patient Register were collected (1996–2015) for this population-based study. We us...

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...