ESPE Abstracts

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...

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...

MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy. It was established in 2016 as a new syndromic disorder caused by a gain-of-function mutation in the SAMD9 gene, which encodes a protein that suppresses cell proliferation. Due to the poor life prognosis, there are few reports on the long-term survival. Therefore, we herein report the clinical course of a 24-year-old male patient...

Background: Patients with homozygous and compound heterozygous familial hypercholesterolemia (FH) have markedly elevated plasma LDL cholesterol (LDL-C) from birth. If untreated, patients develop cardiovascular atherosclerosis resulting in death before the second decade of life. Medication and apheresis are only partially effective in reducing LDL-C levels, and do not significantly improve the prognosis. Liver transplantation (LT) can nearly normalize the cholesterol metabolism...

Background: Hypospadias is a relatively common form of 46,XY disorders of sex development. Although several genes have been implicated in the development of hypospadias, molecular basis of the majority of cases remain unknown. Recently, targeted disruption of lysine-specific demethylase 3A (KDM3A) were shown to cause defective sex development in male mice.Objective and hypotheses: The aim of this study was to clarify whether KDM3A mutations underlie hypo...

Background: Late preterm birth (defined as infants born between 34 and 36 weeks of gestational age) is increasing worldwide. Their postnatal growth has not been fully investigated.Objective and hypotheses: To identify the characteristics of postnatal growth and biochemical markers in late preterm infants.Method: Among 2014 children in the birth cohort study conducted from 2010, 51 children were born late preterm with birth weight a...

Introduction: Ghrelin is a growth hormone-releasing acylated peptide stimulating the appetite, mainly produced in the stomach, and with an important role in pubertal development (1). Two ghrelin forms have been described, acylated (AG) and desacylated (DAG), but it is debated whether DAG is an active hormone or a degradation product of AG (2). Our aim was to evaluate the effects of adding the protease inhibitor 4-(2-aminoethyl) benzenesufonyl fluoride hydrochl...

Background: Nephrogenic diabetes insipidus (NDI) is a disorder characterized by renal resistance to the antidiuretic effect of AVP. Affected patients are exhibiting symptoms as polyuria and polydipsia. Approximately 90% of congenital NDI are inherited in an X-linked recessive manner and caused by mutations of arginine vasopressin type 2 receptor (AVPR2) gene.Objective and hypotheses: An 8-year-old Japanese boy was referred to our hospital for nocturnal e...

Background: While polycystic ovary syndrome (PCOS) is implicated with insulin resistance and obesity, little is known about the abnormal energy imbalance contribution to the disease. Basal metabolic rate (BMR) represents the energy expenditure by a normal subject at rest, remote from eating, in a thermally neutral environment, reflecting the 50–70% of total daily metabolism. The relevant literature is limited with conflicting results- worth meta-analy...

Background: Electromagnetic field (EMF) exposure has been considered a potential environmental toxicant, which may influence endocrine and other functions, while population awareness remains limited. In an earlier study, we demonstrated that EMF alters the hypothalamic-pituitary-adrenal axis in children using a 3G mobile telephone.Aim: To screen and compare the motives, knowledge and status of electromagnetic field expos...