ESPE Abstracts

Introduction: In the last 10 years, blue light (BL) sources such as tablets and phones has increased in every age group. Especially due to the Covid-19 pandemic, screen exposure has also increased in childhood. However, the effects of BL exposure in the puberty process aren’t clear. We aimed to examine the effect of BL exposure and exposure time on pubertyMethods: Immature eighteen 21-day-old female Sprague Dawley ...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

Background: Polycystic ovary syndrome (PCOS) continues to be a diagnostic challenge in adolescent girls. Symptoms like oligomenorrhea and acne, and polycystic ovarian morphology on ultrasound can be normal variants in adolescents. In addition to diagnostic difficulties, there is lack of randomized controlled trials for PCOS treatments specific to adolescents. Current guidelines for diagnosis and management of PCOS in adolescents have large variations and rely ...

Introduction: Idiopathic intracranial hypertension (IIH) is a rare neurological condition characterized by raised intracranial pressure (ICP) in the absence of hydrocephalus, brain parenchymal lesion, vascular malformation, or central nervous system (CNS) infection. Hyperthyroidism is a rare but known cause of raised ICP in children and adults, with only a few case reports in the paediatric population. We describe a 7-year-old boy with IIH associated with hype...

Introduction: β-thalassemia is a hereditary chronic hemolytic anemia characterized by a defect in the synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East (1) Transfusion programs and chelating therapy have greatly extended the life expectancy of patients (2). This has led to an increase in the prevalence of endocrine complications, linked to iron overload (3) including abnormalities in gluco...

Introduction: Thyroid storm is an acute, life-threatening, emergency in children with thyrotoxicosis. It is extremely rare and could be an initial presentation in previously undiagnosed children. Thyroid storm with diabetes insipidus (DI) has been reported in adults, but no cases have been reported in children. We herein report a child with thyroid storm with transient central DI.Case Report: A 7-year-old girl, presented...

Background: Maturity onset diabetes of the young (MODY) is a group of monogenic disorders classically presenting in adolescence or young adults before the age of 25 years. MODY is a rare cause of diabetes.Methods: In this study, a panel of 23 MODY genes was screened. The Human Gene Mutation Database (HGMD), Clinvar, dbSNP and Exac database used for known or new variants causes MODY. Classification of variants performed according to ACMG 2015 Guidelines. ...

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic condition associated with feeding difficulties, hypotonia, developmental delay in infancy; hyperphagia leading to extreme obesity, growth failure and behavioral problems in childhood. Coeliac disease (CD), is an autoimmune disease characterized by gluten intolerance and a variety of symptoms most commonly diarrhea or constipation and failure to thrive. In PWS the challenge is to optimize growth while avoiding obesi...

Background: There is a paucity of information on the utilisation of hospital services by children and adolescents with adrenal insufficiency (AI) and hypopituitarism.Objective and hypotheses: To determine the number of episodes of hospitalisation in children with adrenal insufficiency (AI) and hypopituitarism in Australia, and to analyse trends in these admissions.Method: An analysis of all admissions to Australian hospitals in pat...

Background: Most cases of multiple pituitary hormone deficiency (MPHD) are acquired and genetic aetiology is rare in the UK. We have investigated whether environmental factors are implicated in ‘idiopathic’ MPHD (IMPHD).Objective and hypotheses: In IMPHD to determine perinatal risk factors and radiological features; to identify the regional epidemiology.Method: Systematic analysis of paediatric IMPHD cases in the UK West ...