ESPE Abstracts

Background: Beckwith-Wiedemann syndrome (BWS) characterised by a group of clinical abnormalities (macrosomia, macroglossia, neonatal hypoglycaemia, omphalocoele and umbilical hernia) results from dysregulation of imprinted genes due to mosaic paternal uniparental isodisomy (patUPD) of 11p15.5. Its association with tumours of embryonic origin is well documented and screening guidelines largely aim to detect hepatoblastoma and Wilm’s tumours during the first decade of life....

Background: Antithyroid drugs such as carbimazole form the mainstay of medical management of hyperthyroidism in children. Parents are always warned about agranulocytosis, which is a rare side effect of these drugs. Development of arthralgia after starting antithyroid medication can be a disabling side effect and needs to be distinguished from the more serious antineutrophil cytoplasmic antibody (ANCA) positive vasculitis.Objective and hypotheses: Here we...

Background: Hypothalamic-Pituitary–Adrenal (HPA) axis suppression is common during inhaled corticosteroid (ICS) treatment of asthma, and deaths due to adrenal crisis are described. Little is known about the optimal treatment or recovery of ICS induced HPA axis suppression.Aims: To describe the treatment and outcomes of children with ICS induced HPA suppression diagnosed on the low dose short Synacthen test (LDSST).Method: The ...

Background: Obesity interventions often result in increased motivation to eat after weight loss.Objective: We investigated relationships between obesity outcomes and changes in brain activation by visual food cues and hormone levels in response to obesity intervention by family-based behavioral treatment (FBT).Design, Methods, and Participants: Functional neuroimaging and plasma ho...

Background: Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40–70%), the search for genetic variants contributing to susceptibility has been a challenging task. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these variants do not fully explain the heritability of obesity, other forms of va...

Behavioral studies suggest that brain satiety responses to food consumption are altered in children with obesity. We studied brain regions involved in satiety processing using functional magnetic resonance imaging (fMRI) before and after a test meal. Satiety-related hormonal changes were assessed. Fifty-four 9-11 year-old children with obesity (OB) and 22 children with healthy weight (HW) were studied. Subjects underwent two fMRI scans, one before and one after a test meal, an...

Pituitary adenomas are usually benign tumours arising from the hormone-secreting cells of the anterior pituitary gland. These adenomas can result in excess hormone secretion and the development of characteristic syndromes, such as Cushing’s disease, acromegaly and hyperprolactinaemia, and/or mass effects on surrounding vital structures causing for example visual disturbances and pituitary hormone deficiencies. In children and young people under 19 years (CYP), the managem...

Background: Children with Asthma who do not respond to first-line therapy may need inhaled corticosteroid-long-acting beta agonist combination (ICS-LABA) therapy. Adrenal insufficiency (AI) due to adrenal suppression is a recognized but relatively uncommon side effect of ICS. An increase in suspected cases of AI associated with one particular ICS-LABA, mometasone-formoterol (Zenhale) was observed at a tertiary care Asthma clinic over a 6-month period.Obj...

Background: The effect of maternal obesity and the associated maternal inflammation on neonatal and paediatric health and wellbeing over the early childhood years is not fully understood.Objective and hypotheses: This study aimed to determine the impact of maternal and fetal inflammatory factors on infant anthropometric measurements.Method: 265 mother–infant pairs from an RCT assessing the effect of a low glycaemic index diet ...

Introduction: Resistance to thyroid hormone (RTH) is a rare autosomal dominant condition characterised by tissue-specific insensitivity to thyroid hormone. In 85% of cases the disorder is associated with thyroid hormone receptor β (TRβ) gene mutations.Case report: A 2.6-year-old boy was referred to the Paediatric service with abnormal thyroid function tests (TFTs) (fT4 30.4 pmol/l; RR 12–26, fT3 10.2 pmol/l; RR 3.7&#1...