ESPE Abstracts

Background: Patients with congenital adrenal hyperplasia (CAH) are treated with life-long glucocorticoid (GC) replacement therapy. Negative effects on cognition, brain structure and function during working memory tasks have been identified. To date, no studies on functional connectivity during rest have been performed in patients with CAH. One study conducted on patients with Cushing’s syndrome, another disorder of cortisol imbalance, suggests that long-t...

Title: The making of the EndoWatch: A new device for Early Monitoring of Hypothalamic imbalances. Hulsmann S, Petras S, Fraboulet P, Yuan Lu, van Santen HM (on behalf of the EndoWatch team) Keywords: Paediatric and adolescent cancer survivors, Brain tumour, Quality of Life, Wearable, Hypothalamic Obesity Main goals: Aim for better quality of lifeIntroduction: Children and adults with a suprasellar (hypothalamic)...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...

Background/ Aim: Over the past 6 years, the IGF1/ IGFBP3 generation test (IGFGT) has been used in Belgium in a standardized form to identify children with severe primary IGF1 deficiency (SPIGFD). In this study, the discordance of the IGF1 and IGFBP3 responses during an IGFGT and the prevalence of SPIGFD were analyzed in a cohort of children with short stature (height SDS < - 2) and presenting with low (below lower reference limit) serum IGF1 level and norma...

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

DSD-LIFE is a comprehensive clinical outcome study investigating medical, surgical, psychosocial, and ethical issues to improve treatment and care of patients with the different diagnoses included in the umbrella term disorders/differences of sex development (DSD). The multidisciplinary DSD-LIFE consortium consists of 15 experienced European scientists in the areas endocrinology, psychology, surgery, gynaecology, urology, and ethics. In 2013 the study protocol and the online d...