ESPE Abstracts

We investigated the reference values of liver enzymes based on cardiometabolic risks among children and adolescents using the Korea National Health and Nutrition Examination Survey (KNHANES). A total of 8,091 subjects aged 10-18 years were included data from 2007-2017. Overall, Aspartate aminotransferase (AST), alanine aminotransferase (ALT), and the AST/ALT ratio varied with sex and age. AST levels tended to decrease with age, but ALT levels had a U-shaped curve, which result...

Background: The non-alcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide. It is not uncommon in children with type 1 Diabetes Mellitus. It is often asymptomatic and discovered accidentally.Aim: The aim of this work was to screen the presence of fatty liver among children with type 1 DM attending the diabetes Clinic of Alexandria University Children's Hospital and its relation to the state ...

Background: Early tooth loss could be the consequence of the local or systemic diseases. We present an odontohypophosphatasia case with otosomal dominant mutation in ALPL gene.Objective and hypotheses: We report a case with odontohypophosphatasia and his family investigation.Method: Three-years-old boy admitted to our pediatric endocrinology clinic with toothloss without any other dental or gingival disease. His serum levels calciu...

Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism (CHI) caused by a mutation in the GLUD1 gene. It is characterized by hyperinsulinemic hypoglycemia accompanying hyperammonemia.Objective and hypotheses: We report HI/HA syndrome with a 4-month-old male who hypoglycemic seizure.Method: A 4-month-old male infant presented with seizure caused by fasting-induced hypoglycemia. At the time...

Objective: To evaluate cardiovascular autonomic neuropathy (CAN) in type 1 Diabetics and to detect its relation to coronary artery calcification.Patients and methods: It is a cross sectional study included 62 diabetics and 30 controls. Clinical, laboratory assessment and 24 h holter were done for all patients and controls and coronary artery calcium (CAC) scoring by multisclice CT was done for all patients only. t-test, Mann–Whitney U-test ...

Introduction: Barakat Syndrome (HDR Syndrome) components are hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated with deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: An 11 years old female, was born to non-consanguineous parents. She came to an emergency department complaining of the occurrence of one attack of tonic convulsion...

Objective: to determine risk factors of co-existing thyroid autoimmunity in children with type 1 diabetes mellitus (T1DМ).Material and Methods: 48 children with combined autoimmune pathology (45 – with T1DМ and autoimmune thyroiditis and 3 – with T1DМ and Grave’s disease) – main group, age 12.51±3.57 years) and 99 patients with only T1DM (comparison group, age 11.76±3.05 years) w...

Background: Infantile hypophosphatasia (HPP) is an ultra-rare condition that may lead to debilitating morbidity and mortality. The prevalence of HPP in Indonesia is unknown. Enzyme replacement therapy or asfotase alfa, a bone-targeted recombinant alkaline phosphatase, can improve clinical outcome and prognosis of the patients, particularly those with severe type of HPP. The complications of HPP may be life-threatening and contribute to higher mortality in youn...

Background: Congenital hyperinsulinism (CHI) is a rare condition that becomes the most frequent cause of severe and persistent hypoglycemia in infants and young children. It may lead to debilitating morbidity and mortality if being diagnosed lately. Congenital hyperinsulinism can be caused by monogenic or syndromic disorders. The prevalence of CHI in Indonesia is still unknown. However, the increasing number of cases referred to the tertiary hospital recently ...

Background: X-linked congenital adrenal hypoplasia (adrenal hypoplasia congenita, AHC) is a rare life-threating disorder due to pathogenic variants in the NR0B1 gene. It encodes DAX-1, an orphan nuclear hormone receptor, that acts as a transcription factor and is expressed in the adrenals and hypothalamus-pituitary-gonadal (HPG) axis. Therefore, apart from primary adrenal insufficiency, patients present incomplete or absent puberty and infertility due...