ESPE Abstracts

Introduction: Chronic pancreatitis is defined as recurrent or persistent pancreatitis, which will result in irreversible morphological change in pancreatic structure leading to pancreatic exocrine and endocrine insufficiency. ICCP is a rare condition and only few cases in adults have been reported in Sri Lanka. Prevalence of ICCP is highly variable in Asian and western countries. We present a rare case of FCPD in a 9 a years old boy.<str...

Introduction: Obesity development and subsequent white adipose tissue (WAT) expansion is often accompanied by WAT fibrosis which leads to adipocyte dysfunction. Fibrosis is a condition in which extracellular matrix (ECM) proteins are increased aberrantly and results in immune cell infiltration, cytokine production and insulin resistance. Visfatin is an adipokine that is implicated in obesity and its metabolic consequences; however, its role in WAT fibrosis has...

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused...

Background: The GH/IGF-I axis is involved in metabolic control and studies suggest that IGF-I deficiency and subsequent changes in IGF-I signaling in brown adipose tissue (BAT) modifies its thermogenic capacity. Food restriction reduces thermogenic capacity in BAT, while leptin stimulates thermogenesis through uncoupling protein 1 (UCP-1) induction. Leptin and IGF-I maintain important crosstalk in different tissues, but whether these two hormones interact to r...

Background and Aim: Germline mutations in the tumor suppressor gene PTEN cause PTEN Hamartoma Tumor Syndrome (PHTS). Pediatric patients frequently develop lipomas. PTEN antagonizes the growth promoting PI3K/AKT/mTOR pathway. There is no current treatment option except surgery. Treatment attempts with the mTORC1 inhibitor Rapamycin could not reverse lipoma growth. Recently, lipomas associated with a related syndrome caused by mosaic activating PI3K mutations (P...

Real-world studies reporting the impact of continuous glucose monitoring (CGM) in children with Type 1 diabetes (T1D) are limited. In April 2017 CGM became fully subsidised in Australia for children with T1D <21yrs. We report the impact of this in a large population based sample of paediatric diabetes (n=1093). Almost all (99%) children (age < 18yr) with diabetes in Western Australia attend a single paediatric diabetes centre.Pri...

Background: Approximately one baby in 2000-3000 is born with congenital hypothyroidism (CHT). Newborn screening of CHT is conducted in different countries by the measurement of either thyroid stimulating hormone (TSH) of free thyroxine (FT4) or both. Whereas most Western countries screened CHT by using a blood spot collected on day 3 to 5 of life, some countries' programmes measure umbilical cord blood TSH or FT4 for the screening of CHT. In our maternity ...

Introduction: Developed countries have shown, among the 20th century, a time trend towards a younger age at menarche. Tanner described an anticipation of 3 months every decade. In the last two decades of twenty century we have observed an apparent stabilization of menarche age in most of Western countries.Objective: analyze average age of menarche in Tuscany girls and compare our results with those in literatu...

Introduction: Obesity increases the risk of various disorders including diabetes, non-alcoholic fatty liver disease (NAFLD) and cardiovascular disorders. MicroRNAs (miRNA) are single-stranded, non-coding oligonucleotides that regulate gene expression. Sirtuin 1 (SIRT1), a regulatory enzyme in metabolic homeostasis, is regulated by miRNAs. The aim of this study was to evaluate miR-141 in obesity and whether this miRNA can regulate SIRT1 expression.Materia...

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of 46,XY disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing revealed to carry a X-linked mutation in the StAR-related lipid transfer domain prote...