ESPE Abstracts

Background: Silver–Russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify i) response to GH based on genotype and ii) devel...

Background: Hyperinsulinism (HI) due to excess and dysregulated insulin secretion is the most common cause of severe and recurrent hypoglycaemia in childhood. High cerebral glucose utilisation in the early hours results in high risk of hypoglycaemia for people with diabetes and carries a significant risk of brain injury. Prevention of hypoglycaemia is the cornerstone of management for HI but the risk of hypoglycaemia at night or indeed the timing of hypoglycae...

Introduction: Growth retardation < –2 SDS is frequently observed in children with chronic kidney disease (CKD) and is a marker of severity of CKD. Recombinant human growth hormone (rhGH) treatment has been approved since 1995 in CKD patients. The aim of this study was to describe the growth outcomes and treatment patterns in children with congenital CKD.Methods: Patients were recruited from transplantation recor...

Context: Non-classic congenital adrenal hyperplasia (NCCAH) diagnosed in childhood, whether treated or untreated, could pose an increased risk of obesity and metabolic derangements in adolescence and early adulthood. Both sustained hyperandrogenism and chronic glucocorticoid therapy may affect body composition. However, little is known about the body composition of subjects with NCCAH and its contribution to the development of adverse metabolic outcomes. <...

Introduction: Most patients with endocrine diseases diagnosed during childhood require long-term continuity of care. A lack of regular medical follow-up visits may be associated with impaired long-term health outcomes, with greater risks of morbidity and mortality. The importance and challenges of the transition from pediatric to adult healthcare are well recognized, but few studies have considered loss to follow-up during pediatric care. We investigated the p...

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.Methods: This observational cohort study included all patient...

Background: Pituitary adenomas secreting GH rarely present in childhood. We report the clinical features, management and outcome of the 5 cases referred to a tertiary Paediatric Endocrine/Neurosurgical service over a 20-year period.Patients: **4 Male:1 Female - all aged 15 years at referral. Tanner puberty stages G3-5; B3. Clinical follow-up data range 2 months – 8 years.Clinical features at presentation: Headache, n=...

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...

Background: Neonates born from mothers with Graves’ disease are at risk to develop hyperthyroidism due to placental transmission of TSH-receptor antibodies. Neonatal hyperthyroidism should be effectively diagnosed and treated to prevent severe complications of this disease (cardiac symptoms, poor weight gain, severe neurological manifestations).Objectives: To describe the post-natal follow-up of neonates born from women with Graves’ disease.</p...

Background: Diabetes is the third commonest chronic disease of childhood. When a child or an adolescent is diagnosed with type 1 diabetes (T1D), adaptation to a new life is usually a challenge for the whole family. There are specific challenges posed by T1D on the affected children, and their families, at different developmental age groups. The correlation between HbA1c and age specific psychological challenges, to our knowledge, has not been previously explored in the Middle ...