ESPE Abstracts

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

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,...

Background: The pathophysiology of the increased fracture risk in Type 1 Diabetes Mellitus (T1DM) remains unclear.Objectives: Perform multimodality assessment to determine the effects of T1DM on bone health and fractures.Methods: Thirty-two children with T1DM at a median (range) age of 13.7 years (10.4, 16.7), and median HbA1c 65mmol/mol (27,100) were recruited. Serum bone alkaline phosphatase (BAP) and c-terminal telopeptide type ...

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: Obesity is a persistent disorder that almost universally recurs following treatment, suggesting a disruption on central nervous system control over energy homeostasis. Recent literature suggests that hypothalamic inflammation may have an important role on obesity pathogenesis. This inflammatory reaction, which histologically appears as a reactive gliosis, may be detected using magnetic resonance imaging (MRI), and has just been shown in rodent models and adults.</p...

Background: DLK1 or PREF1 is an imprinted gene highly expressed from the paternal allele in embryonic tissues and placenta. It has been recently implicated in adipose tissue expansion and diabetes development. The human rs1802710 polymorphism (SNP) in DLK1 gene has been associated with early-onset extreme obesity but its role determining growth is unknown.Objective and hypotheses: To study the preferential paternal transmission...

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...

Background: Transient hyperinsulinemic hypoglycaemia (THH) is associated with risk factors such as prematurity, maternal diabetes mellitus, perinatal hypoxia, small for gestational age (SGA) and syndromes like Beckwith Wiedemann syndrome (BWS).Objective: To present the features of a large cohort of patients with THH managed at a Quaternary referral centre.Method: Patients who had neonatal onset HH that resolved before the 2nd birth...

Background: The GH/IGF1 axis has important roles in growth, metabolism, lipid profile and body composition. GH receptor disrupted mice (GHRKO mice) are resistant to the action of GH, thereby, GHRKO mice are dwarf, hypoinsulinemic, hypoglycemic and obese. Consumption of a high fat diet (HFD) induces inflammatory processes in a multitude of peripheral tissues, including hypothalamus.Objective and hypotheses: Our aim was to evaluate the effect of HFD intake...

Background: Androgen insensitivity syndrome (AIS) is a genetic disease X-linked, caused by functional abnormalities of the androgen receptor (AR). Mutations in the AR are associated with broad phenotypic spectrum from partial insensibility (PAIS) to complete insensitivity (CAIS).Objective and hypotheses: To characterize the mutations (MUT) identified in the AR in 38 Brazilian families with AIS. The MUT were analyzed considering their type, location in th...