hrp0095p2-314 | Late Breaking | ESPE2022

A case of permanent congenital hypothyroidism with NKX2-1 mutation and optic nerve thickness

Yang Jaejin , Yeong Chung Woo , Hwan Oh Seung , Hun Seo Go , Rye Kim Jeong , Yu eesuk

Congenital hypothyroidism can be caused by the wrong formation of the thyroid gland or the defect in the synthesis of thyroid hormone. Among the candidate genes, defect in the gene NKX2-1 can be presented as thyroid, lung, or brain dysfunction. An eight-year-old boy was diagnosed as congenital hypothyroidism at the age of 16 days. He was referred to our Pediatric Endocrinology Clinic due to elevated TSH level (36.28uIU/mL). Serum total T3 and free T4 were 125 ng/dL an...

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,...