hrp0092p3-15 | Adrenals and HPA Axis | ESPE2019

Nephrotic Syndrome Developed in a Girl With Lipoid Adrenal Hyperplasia due to StAR Gene Mutation – First Report

Mi Jang Kyung , Hoon Park Yong , Yeong Chung Woo , Keum Changwon

Introduction: The incidence of idiopathic nephrotic syndrome (NS) is 1.5~16.9 per 100,000 children. The cause remains unknown but the pathogenesis of idiopathic NS is thought to involve immune dysregulation, systemic circulating factors, or inherited structural abnormalities of the podocyte. NS is characterized by the triad of proteinuria, hypoalbuminemia, and edema. There can be an antecedent infection, typically of the upper respiratory tract. Moreover,...

hrp0086p1-p258 | Diabetes P1 | ESPE2016

Possible Monogenic Diabetes Mellitus Including Mody is Highly Prevalent in Korean Children with Diabetes Mellitus

Moon Jung-Eun , Cho Eun-Mi , Jang Kyung-Mi , Ko Cheol-Woo

Background: As the human genome is further explored, multiple genetic anomalies at different loci are being found that confer varying degrees of predisposition to diabetes. MODY is the most common form of monogenic diabetes, accounting 2–5 percent of diabetes. Recently, we have found and reported three noble gene variants relating to MODY in Korean children (Shim et al, Horm Res Pediatr, 2015).Objective and hypotheses: This study was done to see the...