ESPE Abstracts

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...

Background: The detection of hyperglycemia on occasional evaluation raises the diagnosis of diabetes mellitus (DM). Maturity onset diabetes of the young (MODY), namely glucokinase deficiency, should be considered in cases of non-progressive hyperglycemia associated with a positive family history.Objective and hypotheses: We describe two unrelated cases of asymptomatic hyperglycemia where glucokinase mutations were detected.Method: ...

Introduction: Treatment with recombinant growth hormone (rGH) is safe and has greatly improved the approach of children and adolescents with growth hormone deficiency (GHD) and other growth disorders. Some studies show that most of the height gain associated with GH treatment occurs in prepubertal years. The aim of our study was to evaluate the effect of age at start of the treatment on final height in children with isolated or GHD in a Portuguese cohort.<p class="abstext"...

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...