ESPE Abstracts

The homeostatic control of energy balance is tightly regulated. Appetite and energy expenditure regulation involves neurons in the hypothalamus as well as other brain regions, including the limbic system, amygdala and the brainstem. Hypothalamic obesity is a well-recognized consequence of lesions such as craniopharyngiomas and other tumors in the hypothalamic region. Less known is obesity related to tumors in other brain regions. The child presented at 14 years of age with fai...

Introduction: Children with Adrenal insufficiency (AI) are usually managed with glucocorticoid replacement as hydrocortisone. Treatment options in younger patients include administering an aliquot of 10mg hydrocortisone tablets dissolved in water. However, this is time consuming and may be inaccurate. We describe our experience of using Alkindi (www.diurnal.co.uk), the first hydrocortisone preparation licensed for children with AI.<stron...

Background and Methods: PCOS is common in adolescents and imparts a significant health and economic burden. Yet, our understanding of its complex pathogenesis is lacking. Proteomic analyses would be a valuable tool to deepen our knowledge of the biological pathways which underpin PCOS, and to identify novel biomarkers to diagnose and monitor this common condition. Therefore, we undertook a deep phenotyping discovery proteomic profiling (nano-2D-LC-QTOF MSe) on...

Background: Polycystic ovarian syndrome (PCOS) is common, affecting up to one-fifth of females. PCOS is associated with significant comorbidity including metabolic dysfunction, pro-inflammation and mood disorders. Despite this, it is poorly understood, and diagnosis and management remain challenging in adolescents. Proteomics enables the better understanding of disease mechanisms and facilitates the identification of novel biomarkers.<st...

Background: Polycystic ovarian syndrome (PCOS) is the most common hormone disorder in adolescent and young adult females, affecting 4–20% of the population. PCOS is associated with metabolic dysfunction, pro-inflammatory processes and mood disorders. Despite this, it is poorly understood in younger adolescents, and diagnosis and management remain challenging.Objectives: To better understand the clinical phenotype of PCOS in adolescents. Subsequently...

Background and Methods: PCOS is common and associated with significant comorbidity. However, its pathogenesis is complex and poorly understood. We have developed new methods for deep phenotyping discovery proteomic profiling of urine, aiming to identify disease mechanisms, drug targets and novel non-invasive biomarkers for PCOS in adolescents. Here, we present the baseline proteomic data from our prospective, longitudinal study (n=40). We undertook proteomic analysis ...

Introduction: The human adrenal gland originates from the adrenogonadal primordium at around 4 weeks post conception (wpc) and undergoes marked developmental changes throughout the first half of pregnancy. Several key aspects of adrenal maturation are well-established, such as the formation of a large inner fetal zone (FZ) and synthesis of dehydroepiandrosterone, but many other processes contributing to adrenal gland development and function in humans are stil...

Background: Congenital Hyperinsulinism International (CHI) is an international non-profit organization focused on improving the lives of patients and families living with hyperinsulinism (HI). Despite many advances in the care of patients with HI, long term neurologic outcomes have not significantly improved, highlighting the need for CHI’s goals for robust and rapidly translatable research. We describe the development of a collaborative research network...

Background and Aims: In patients with congenital hyperinsulinism (CHI), recurrent hypoglycaemia can lead to longstanding neurological impairments. At present, glycaemic monitoring is with infrequent fingerprick tests; a practice which can miss hypoglycaemic episodes between tests. Continuous glucose monitoring (CGM) is a promising alternative method which has the utility to identify risk and patterns of hypoglycaemia. Although CGM is well established in type 1...

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...