ESPE Abstracts

Key Words: Congenital Adrenal Hyperplasia, Advanced bone age, Aromatase inhibitors, Predicted Adult HeightIntroduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is characterized by cortisol and mineralocorticoid deficiency with excess adrenal androgen production. Standard treatment includes glucocorticoid and mineralocorticoid replacement. Slightly supraphysiological glucocorticoid r...

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abnormalities remains unknown.Objec...

Prader Willi Syndrome (PWS) is a rare neuro-genetic disorder inherited as a result of lack of expression in 15q11-13 gene and 70% are paternally inherited. Characteristic features are dysmorphism, behavioural problems, infantile hypotonia, short stature, hypothalamic dysfunction, hyperphagia and morbid obesity. The long-term morbidity and mortality depend on hypothalamic dysfunction and obesity. While multidisciplinary care is essential, growth hormone (GH) is a recognized...

Background: Normal function of the thyroid gland is essential for adequate neurological development of the fetus and child. In previous studies, associations between reduced birth weight and overt maternal and fetal thyroid dysfunction have been described. We hypothesize that also variations within the normal range of fetal thyroid function have an impact on fetal and neonatal growth.Objective: The aim of this study is to investigate whether thyroid horm...

Background: Hypospadias is a common characteristic of Disorders of Sex Development (DSD). At the present time a molecular diagnosis is not reached in over 50% of cases. The DDD Study represents a useful resource of large molecular and phenotypic datasets obtained from individuals with an undiagnosed developmental abnormality including DSD.Objective: To review associated features and identify likely pathogenic variants in previously undiagnosed DDD partic...

Background: Inter-individual differences in the metabolism of cortisol have been postulated to emerge during puberty, and might be explained by a complex interplay of genetic and environmental factors. The aim of the current study was to estimate the relative contributions of genetic, shared environmental, and unshared environmental factors on cortisol metabolism in a longitudinal twin cohort assessed at pre-pubertal, mid-pubertal and post-pubertal ages....

Background: Diabetes is a recognised long term sequelae in childhood cancer survivors following bone marrow transplantation and total body irradiation (BMT/TBI), due to a combination of insulin deficiency and resistance.Aim: To characterise presentation, treatment and clinical course of diabetes in childhood leukaemia survivors post BMT/TBI.Method: A single centre retrospective case note review of diabetes post BMT/TBI identified f...

Background: Nutrition plays a pivotal role in long-term survival in cystic fibrosis (CF). Early insulin treatment for glucose intolerance promotes anabolism and stabilises lung function. However there is a variation in cystic fibrosis related diabetes (CFRD) screening across centres (recommended age for start of CFRD screening varies between 10 and 12 years as per CF trust, CFF & ISPAD guidelines).Aims: To assess if early screening of glycaemic statu...

Background: A multidisciplinary team (MDT) intervention may improve severe obesity in children through education and life-style change.Objective and hypotheses: MDT intervention leads to improvements in clinical measures of obesity.Method: Participants were selected by criteria: <16 years old; BMI >3.5SDS or BMI >2.5 SDS with obesity-related co-morbidity. Children and their families, attended intervention sessions over ...