ESPE Abstracts

Background: Newborn screening for congenital adrenal hyperplasia (CAH) has been shown to reduce time to diagnosis, and thus morbidity and mortality. Internationally, newborn screening for CAH continues to expand and screening techniques have improved, with the implementation of second-tier testing and use of gestational age stratification. The aim of this study was to examine the incidence and spectrum of early clinical presentations of CAH in an unscreened po...

Introduction: PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2] is a unique clinical complication of COVID -19 infection in paediatric patients. We report a case of a child presenting with PIMS-TS and new onset type 2 diabetes.Presentation: A previously healthy 15 year old boy of Bengali-Indian origin presented to the hospital with polyuria, polydipsia, dry cough, abdominal pain and 1 episode of...

Background: Glucocorticoid (GC) therapy is standard of care of management of Duchenne Muscular Dystrophy (DMD) but its use is associated with a range of side-effects. Weight gain leading to significant obesity is common in GC treated boys. There are limited studies evaluating body composition in DMD following initiation of GC, and the timing of increase in fat mass is not known.Aim(s): To evaluate changes in growth param...

Background: Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia (ONH). Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported, however the nature and prevalence of these neurobehavioural impairments remain to be fully understood. The present systematic review aimed to...

Background: Testosterone therapy is recommended for management of puberty from the age of 12 years in boys with Duchenne Muscular Dystrophy(DMD) in accordance with the 2018 international standards of care. The majority of boys loose ambulation in mid to late adolescence. Height measurement is problematic in these adolescents s as lower limb contracture can be common and estimated height from segmental body part measurements generally over-estimate height.<...

Background: Hyperthyrotropinaemia (HTT) describes the biochemical condition of elevated thyroid stimulating hormone (TSH) with normal thyroid hormone concentration. The aetiology of this condition is likely multifactorial but factors such as maternal thyroid disease and presence of trisomy 21 (T21) are thought to play an important role. HTT can be identified during newborn screening for congenital hypothyroidism (CHT), or when thyroid investigations are perfor...

Background: Variable rate intravenous insulin infusion (VRIII) is commonly used in unwell patients with diabetes and complex nutritional needs. However, frequent blood glucose monitoring with infusion rate adjustment gives rise to significant safety concerns and is extremely resource intensive. Fully closed-loop (FCL) systems are promising technological advancements in diabetes management. It comprises of continuous glucose monitoring and a control algorithm t...

Background: Insulin Tolerance tests (ITT) have long been considered the gold standard for dynamic function testing of the hypothalamo-pituitary-adrenal (HPA) axis. Sub-optimal cortisol responses during an ITT in children may be found in children during ITT without a previous clinical suspicion of Adrenal insufficiency (AI). It is not clear what the clinical significance of this is and whether all of these children require formal synacthen testing.<p class=...

Background: The prevalence of vertebral fractures (VF) in Duchenne Muscular Dystrophy (DMD) is currently unknown as systematic spine imaging is rarely performed.Objective: To determine the prevalence of VF in DMD and factors associated with VF.Method: A prospective study utilising systematic screening with DXA vertebral fracture assessment (VFA) was performed in all 47 eligible boys. 6/47 were excluded due to spinal instrumentation...

Background: The integration of technology in health care has led to improved medical care and better compliance, especially in chronic diseases such as diabetes. Despite these advances, compliance has always been an issue in caring for adolescents with diabetes. Text messaging has become a popular way to communicate with peers especially for teens. Multiple studies support the theory that texting is an easy and affordable resource that health care providers can utilise to educ...