ESPE Abstracts

Introduction: CHARGE syndrome is characterized with coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia and ear abnomalities. Recently, symptoms of CHARGE syndrome and 22q11.2 deletion syndrome were known to overlap. We describe a case of CHARGE syndrome that has variation in the CHD7 gene with hypoparathyroidism.Case Report: The patient is an 11-year-old boy who was bor...

Introduction: Glycogenic hepatopathy (GH) is a rare diabetic complication that induces hepatomegaly and elevated transaminases, which can often appear in type 1 diabetes mellitus (T1DM) with poor glycemic control. GH appears when excess glycogen accumulates in the liver through continued hyperglycemia with intensive insulin therapy. We show a pediatric case of recurrent GH due to poor glucose controlled with complicated family environment and mildly intellectu...

Fetal alcohol syndrome (FAS) is established based on the presence or absence of characteristic facial features, prenatal/postnatal growth deficiency (height and/or weight < 10th percentile), deficient brain growth, neurobehavioral impairment, and maternal alcohol consumption during pregnancy. There have been no reports of growth hormone (GH) treatment in FAS; therefore, we report a case of GH treatment on FAS for small for gestational (SGA) short stature. The patient was a ...