ESPE Abstracts

Background: The stimulatory G-protein α-subunit encoded by GNAS exons 1–13 (GNAS-Gsα) mediates signal transductions of multiple G-protein-coupled receptors including arginine vasopressin (AVP) receptor 2 (AVPR2). To date, various germline-derived loss-of-function variants of maternal and paternal origin have been found in pseudohypoparathyroidism type Ia and pseudopseudohypoparathyroidism respectively, and specific somatic gain...

Background: Kawasaki disease (KD) is an acute inflammatory disorder, associated with systemic vasculitis including coronary artery aneurysms (CAA). Treatment with intravenous immunoglobulin (IVIG) can resolve inflammation. However, about 20% patients show resistant to IVIG treatment and some of the cases required additional treatments. Recently, IVIG plus adjuvant glucocorticoid hormones (GC) has been shown to be an effective therapy for these patients, su...

Background: Familial hypocalciuric hypercalcemia is a rare, lifelong, but benign hereditary disorder due to its mild, often asymptomatic phenotype. Here we present a rare case of neonatal hypocalciuric hypercalcemia complicated with arrhythmia.Case: A healthy male infant weighing 2636g was delivered by spontaneous vaginal delivery at term. The pregnancy had progressed normally, but neonatal arrhythmia was found by physic...

Case presentation: A 2-year-boy was referred tour hospital for the rickets. He was the first son between non-consanguineous parents and fed with breast milk. But after weaning, he was avoided from taking egg, dairy products including cow’s milk. He was also suffered from developmental delay and had strong food preference. He could take only two kinds of foods, steamed rice and soy bean product, tofu. X-ray findings showed typical rachitic change on long bone metaphysis. L...

Background: The clinical diagnosis of x-linked hypophosphatemic (XLH) rickets is based on a number of biochemical observations. These include a reduction in the percentage of tubular reabsorption of phosphate (%TRP), and in the maximal tubular phosphate reabsorption capacity corrected for glomerular filtration rate (TmP/GFR). However, it is important to maintain sufficient renal blood flow in order to accurately calculate TmP/GFR.Objective: The aims of t...

Introduction: We previously reported that miglitol, an alpha-glucosidase inhibitor (α-GI), increases energy expenditure by enhancing β3-adrenergic signaling of brown adipose tissue (BAT) and reduces obesity in dietary-induced obese mice (S Sugimoto et al, at the 9th joint meeting of Pediatric Endocrinology, 2013) (Nutrition & Metabolism). However, this report did not describe the mechanism by which miglitol enhances β3-adrenergic signaling....