ESPE Abstracts

Background: Metformin (dimethylbiguanide) is the most widely prescribed treatment for children with T2DM. Long term controlled studies are still required to assess its effect on prediabetes dysglycemia in childrenCase presentation: A 13-year-old lean adolescent girl presented to PEC with a day history of difficult breathing associated with dry cough. No history of fever, abdominal pain, vomiting or change in bowel motion. She had a 10 months’ histor...

Introduction: A multicenter clinical trial in the US showed that underweight small for gestation (SGA) children responded to GH treatment like non-underweight SGA children. However, data on GH response in short underweight children with the normal birth size is not studied well.Aim: To measure growth response to GH therapy in underweight children versus short normal-weight children with idiopathic short stature (ISS) bor...

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. In 2016, nusinersen (Spinraza) was approved by the FDA. The first AAV9-based gene therapy (Zolgensma), was approved by the FDA (2019) for the treatment of infants with SMA. We report an SMA case with recurrent hypoglycemic events after gene therapy.Case Report: A 22 months old boy, with SMA type 1 was born at term by CS for fetal bradycardia....

ISS is a condition in which the height is more than 2 SD below the corresponding mean height for age, sex and population, in whom no identifiable disorder is present. Some ISS patients may have varying degrees of IGF-1 deficiency. Recombinant GH treatment has been used by some authors with variable results. Theoretically, low IGF-I level at presentation may affect their response to GH therapy. The question is: do children with ISS and low IGF-I respond differently to GH therap...

Introduction: Children with idiopathic short stature have linear growth impairment despite normal or even high levels of GH. In some of these children IGFI level is low (NGH + Low IGFI (IGFSDS<-1.5). It was observed that some children with GHD (Peak GH < 7 ng/dl after provocation) have normal IGFI levels (GHD +Normal IGFI). The linear growth of these two groups at presentation and their response to GH therapy was not studied well.<p class="abstext"...

Introduction: Stimulated GH peak values have been shown to correlate well with nocturnal GH peak values and with nocturnal mean GH values. In addition, the expression level of serum IGF-1 in ISS has been shown to be significantly lower than that in normal children despite their normal GH peak response to provocation. GH stimulates the production of IGF1; however, their metabolic effects are different. GH has lipolytic and anti-insulin actions while IGF1 has in...

Introduction: The 22q11 deletion is one of the most commonly recognized deletion syndromes in humans (~ 1/4000 live births). Most of the reported defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome. In deletion syndromes, the phenotype ranges from unspecified dysmorphic features to severe cognitive/behavioral deficits, but normal features can occur depending on the size and amount of gene dosage...

Background: Very Low birthweight (LBW) is defined as birthweight below 1.5 kg) and compared to AGA they are reported to be at a higher risk to develop slow postnatal growth outcomes.Objectives: To describe the postnatal growth of 120 VLBW newborns who had birth weight < 1.5 kg. linear growth trajectories of VLBW infants were compared with normal infants (WHO curves) during the first 24 months of life.<p class="abs...

Background: Adipose tissue plays a central role in regulating whole-body energy and glucose homeostasis through secreting hormones that regulate multiple functions at both organ and systemic levelsObjectives and Methods: We performed electronic literature systematic review using PubMed, Google Scholar, and Web of Sciences with the aim to provide an update on the link between adipocyte hormones and the immune system in in...

Introduction: FOXP3 protein is crucial in enabling T-regulatory cells to maintain tolerance to self-antigens. Mutations in human Foxp3 gene are associated with immune diseases, such as multi-organ autoimmune disorder, immune dysregulation, polyendocrinopathy, enteropathy and X-linked syndrome (IPEX).Case Presentation: A 15 months old male, presented initially at 2 weeks of age with failure to thrive hyperglycemia and sev...