ESPE Abstracts

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...

Background: Immunoglobulin superfamily, member 1 (IGSF1) was originally proposed to function as an inhibin co-receptor in pituitary gonadotroph cells. More recently, however, loss of function mutations in the human IGSF1 gene were linked to a novel syndrome of central hypothyroidism, testicular enlargement, and variable prolactin-deficiency. Igsf1-deficient mice are also centrally hypothyroid, with reduced pituitary thyrotropin-releasing hormone receptor (<em...

Background: Crohn’s disease is a relapsing systemic inflammatory disorder with inflammatory bowel disease (IBD) due to up-regulation of pro-inflammatory cytokines including TNFα. More than 80% of newly diagnosed children present with growth failure Paediatric gastroenterology units in the UK submit data to the UK IBD database which can be accessed when required. One aim of current treatment protocols is to promote growth. Studies on the use of anti-TNFα antibodi...

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare pediatric disorder. The classic form occurs in 1:15,000 births worldwide. Osteogenesis imperfecta is a rare bone disease occurring in 1 in 15,000 to 20,000 births. Cow’s milk allergy (CMA) is of the commonest food allergies in early life. Our case presents the co existence of the abovementioned entities in a patient.Case report:</str...

Background: Research on the impacts of achondroplasia on children's functioning and well-being is limited. The purpose of the study was to investigate the impacts of achondroplasia on children's daily lives to support the development of an impact measure of achondroplasia on children's functioning and well-being.Methods: Individual telephone interviews and one parent focus group were conducted in the United S...

Case Description: We report a case of a 7-month old Vietnamese boy who presented with failure to thrive and a Cushingoid appearance from 1 month old. There was no history of exogenous steroid use. On examination, height and weight were <3rd centile. He was Cushingoid with motor development delay. There were multiple large café-au-lait lesions over the sacral region but no limb asymmetry to suggest fibrous dysplasia.En...

Background/Objective: Smoking during pregnancy is known to influence prenatal/postnatal growth of the offspring. We investigated the impact of smoking in the Swedish reference population for new reference for height, weight and BMI, the GrowUp1990Gothenburg cohort.Material/Methods: The study was based on 1907 healthy children (918girls/989boys) born at term in Sweden with Nordic parents and longitudinal growth measurements. 155girls/180b...

Introduction: Hypogonadotropic hypogonadism (HH) is a rare condition, where a definitive diagnosis is often hard to reach.Objectives: To describe the clinical, biochemical and genetic findings in cases with suspected HH in the West of Scotland who were referred for genetic analysis between 2016 and 2020.Methods: Information was collected on clinical assessment including family hist...

Introduction: De novo and inherited cases of 16p11.2 microdeletion and duplication syndromes have a spectrum of clinical manifestations, with incomplete penetrance and variable expressivity.16p11.2 copy number variants have shared phenotypic features (autism, developmental delay). Mirror phenotypes have also been described: deletions – obesity, hyperphagia, macrocephaly; duplications – underweight, feeding/eating disor...

Introduction: The complications of obesity are well recognised and documented in the adult population. There is little data available that reports the complications of childhood obesity seen in clinical practice. The aim of our study is to investigate the different types of complications seen in children and young people (CYP) with obesity.Methods: 125 CYP aged 0-18 years who had a body mass index (BMI) standard deviatio...