ESPE Abstracts

Background: Growth patterns in infancy and early childhood have been linked to risks of obesity and cardiometabolic disorders in adulthood. Body fat partitioning, particularly increased fat accumulation at ectopic sites, has been strongly associated with cardiometabolic disorders. However, the lack of precise body composition measures in prior longitudinal birth-cohort studies has made it difficult to ascertain if early growth patterns could result in consolidation of distinct...

Objectives: Abdominal fat has been strongly linked to increased cardiometabolic risk and impaired glucose regulation in adults. Owing to the lack of detailed body composition phenotyping in most previous child cohort studies, the temporal links between abdominal fat accumulation and impaired glucose regulation have not been well established. In this study, we evaluated the associations of abdominal fat assessed by MRI at early infancy (≤21 days after birth) and at 4.5 ye...

Background: In newborns, physiological transition of glucose metabolism is typically completed within 48–72 h of life, yet prolonged hyperinsulinemic hypoglycemia (HH) beyond 5d of life is not uncommonly encountered, especially in infants at-risk of hypoglycemia. Management includes intravenous dextrose while awaiting spontaneous resolution (SR) of HH or Diazoxide (DZX) therapy. Since DZX acts by suppressing insulin release, concerns arise whether weight gain in infancy w...

Background: In paediatric patients with metabolic bone diseases, measurement of the concentrations of minerals including inorganic phosphate is often indicated, and hypophosphataemia is a clinically manageable biochemical disorder. The clinical interpretation of plasma or serum phosphate concentrations depends, to a certain extent, on the age- and gender-specific reference intervals applicable to the laboratory methods employed.Whereas h...

Background: Cell death-inducing DFF45-like effector C (CIDEC) is a novel lipid droplet-coating protein that promotes triglyceride accumulation and inhibits lipolysis. TNFα downregulates CIDEC levels to enhance basal lipolysis, while CIDEC overexpression could block this effect. However, the signalling mechanism by which TNFα regulates CIDEC expression in human is still unknown.Objective and hypotheses: The aim of this study was to investigate t...

Background: Congenital sodium diarrhea (CSD) is a monogenic disorder caused by specific genetic defects that increase sodium content in the stool, resulting in intractable diarrhea. There are two categories of CSD depending on whether it involves other congenital malformations: non-syndromic congenital sodium loss diarrhea (non-sCSD) and syndromic congenital sodium loss diarrhea (sCSD). For non- sCSD, the identified causative genes include SLC9A3 and GUCY2C, w...

Background: Cantu´ syndrome is rare disease characterized by characterized by congenital hypertrichosis, neonatal macrosomia, cardiomegaly and several other abnormalities. Gain-of-function mutations in either KCNJ8 or ABCC9 have been identified as the causative gene for Cantu´ syndrome. Here we report the first genetically diagnosed Cantu´ syndrome case in China and describe the full clinical features of the case.<p class="...

Background: The most frequent cause of familial growth hormone deficiency (GHD) is Type II autosomal dominant GHD (isolated GHD type II) due to several heterozygous GH1 mutations.Method: Genomic DNA from patients with familial GHD was enriched for the coding exons using hybrid capture technology and GH1 was sequenced using Next Generation Sequencing technology. Plasmids containing genes for WT and A34T GH1 were transfected into NCI HEK2...

Background: Prader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of paternally inherited imprinted genes on Chr15q11-q13. rhGH has beneficial effects on growth, body composition and development. Starting age, dose titration and monitoring remain controversial.Objective: To study retrospectively children who presented in our multidisciplinary PWS clinic and assess response to rhGH treatment, auxology, IGF1 concentration a...

Background: Type 1 diabetes mellitus (T1DM) is a common autoimmune condition in childhood and may be complicated by episodes of diabetic ketoacidosis (DKA). DKA is a state of severe insulin deficiency, resulting in hyperglycemia, ketonemia, acidemia, and systemic inflammation. This is predominantly attributable to intracerebral complications. We report a girl with a newly diagnosed T1DM who presented with DKA and cerebral infarction.Case: A 13-year-old p...