ESPE Abstracts

Background: SHOX and enhancer regions on PAR1 disorders have variable phenotypic consequences such as idiopathic short stature (ISS) and Leri-Weill Dyschondrosteosis (LWD).Objective and hypotheses: The aim of this observational multicentric study was to describe phenotypes and genotypes of a large population with mutation on SHOX and adjacent regions and to identify a possible phenotype–genotype correlation.M...

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood.Objective and hypotheses: To investigate the effectiveness of a comprehensive and personalized plan of action in the prevention and management of overweight and obesity in childhood and adolescence.Method: 470 children and adolescents (mean age±SEM: 9...

Background: The surgical reconstruction of hypospadias is usually performed during the first 2 years of life but little objective data is available to determine its optimal timing. Whereas the no-early surgery option in DSD management is rising, the results of late genital surgery should be evaluated before advocating this attitude.Objective and hypotheses: To evaluate the outcome of hypospadias surgery according to age and to determine if some complicat...

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...

Introduction: Proton beam therapy (PBT) is being used increasingly for craniopharyngioma, as it is perceived to be a major benefit. There are some limited data relating to endocrine dysfunction following PBT, but very limited data on hypothalamic disturbance. Here we report two patients who presented with hypothalamic disruption immediately following PBT for craniopharyngioma.Case 1: A 12 year old girl presented with sei...

Background: It is well known that GH deficiency (GHD) in adulthood is associated with detrimental cardiovascular (CV) effects. Although data are controversial, adolescents with childhood-onset GHD (COGHD) and reconfirmed GHD may have increased metabolic risk after GH treatment withdrawal at final height (FH).Aim: Aim of our study is to compare growth response and metabolic profile in idiopathic COGHD adolescents with rec...

Background: Few studies have described the phenotypic spectrum of Septo-Optic Dysplasia (SOD). The aim of this study was to evaluate the range of H-P structural abnormalities and the endocrine morbidity of children with SOD and related disorders.Methods: Retrospective longitudinal single centre study of children with SOD (n:171), Multiple Pituitary Hormone Deficiency (MPHD) (n:53) and Optic Nerve Hypoplasia (ONH) (n:35).<p class="ab...

Background: There are international guidelines on screening for Microalbuminuria (MA) in children with Type1 Diabetes Mellitus (T1DM). But the National Paediatric Diabetic Audit, UK suggests that screening is missed in over 50% of cases. Further, there is little data on the management and natural course of MA in children by frontline units.Objective and hypotheses: To describe the prevalence, management and natural course of MA in children and adolescent...

Background: Prader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of paternally inherited imprinted genes on Chr15q11-q13. rhGH has beneficial effects on growth, body composition and development. Starting age, dose titration and monitoring remain controversial.Objective: To study retrospectively children who presented in our multidisciplinary PWS clinic and assess response to rhGH treatment, auxology, IGF1 concentration a...

Background: Mutations in the 17β-hydroxysteroid dehydrogenase (17βHSD 3) result in 46,XY disorder of sex development (DSD). Biochemical hallmark of 17βHSD 3 deficiency is a Testosterone/Androstenedione ratio (T/A ratio) <0.8. 17βHSD 3 mutations have been associated with a wide spectrum of phenotypes, ranging from under-virilized male to a female appearance of genitalia at birth. Indeed, 17βHSD 3 deficiency in prepubertal patients is often clinicall...