ESPE Abstracts

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. With no approved therapies to treat hyperphagia, disease management requires strict dietary and environmental controls to restrict access to food. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The obje...

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. No approved therapies exist for treating hyperphagia in patients with PWS. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The objective was to determine the efficacy of investigational DCCR on hyperphag...

Background: Those affected by adrenal insufficiency (AI) (including congenital adrenal hyperplasia (CAH)) are at risk of serious illness and growth problems, and as a result they require life-long daily hormone replacement therapy. Little is known about the psychosocial impact that living with and treating AI on a daily basis can have on both children and their parents.Objective and hypotheses: The aim of the study was to explore the psychosocial impact ...

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused...

Background: Beta-tumour cells (βTC) are a group of highly differentiated beta cell lines derived by expression of the SV40 T antigen (Tag) oncoprotein under control of the insulin promoter in transgenic mice. βTC-6 cells exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate insulin secretion.The CRISPR/Cas9 genome-editing platform is a versatile and pow...

Background: Treatment of a subset of Congenital Adrenal Hyperplasia (CAH) patients consists of glucocorticoids, such hydrocortisone and prednisone. Doses are titrated to achieve adequate levels of biochemical markers, namely 17-hydroxyprogesterone and androstenedione. When these biomarkers are abnormal, medication adherence is often considered. However, alterations in glucocorticoid sensitivity is rarely considered. We have created a fluorescein labeled dexame...

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s persp...

While it has been established that within the first 4 months of life there is an absence of the circadian rhythm guiding cortisol secretion, it remains unclear if a random serum cortisol (rSC) level is useful in diagnosing neonatal primary adrenal insufficiency (PAI). The objective of this study is to determine the utility of rSC in determining PAI within the first 4 months of life. This is a retrospective chart review of subjects who had rSC collection and high dose cosyntrop...

Background: Permanent adrenal insufficiency (AI) is an uncommon but potentially life-threatening condition in children. Patients are at particular risk during times of stress. Thus, caregivers should have good illness management skills. Despite frequent teaching and seemingly good knowledge of illness management we still see a reluctance of caregivers to administer intramuscular (IM) hydrocortisone at home when indicated, preferring instead to drive themselves...

Background: The internet provides a multitude of health information. Understanding disorders/differences of sex development (DSD) can be difficult for families partly due to their complexity and relatively low prevalence. Consequently, families may use the internet to gain understanding of their child's condition, however the quality of this information has not been formally assessed.Aims: To assess the quality, vali...