ESPE Abstracts

Introduction: Patients with rare genetic syndromes (RGS) often have a combination of hormone deficiencies, organ problems and neurodevelopmental disorders. Due to excellent paediatric care, a growing number of patients is reaching adult age. Transition of these patients to adult health care system has proved to be challenging. Due to the rarity and complexity of their syndromes, patients with RGS often suffer from medical complications due to needless diagnost...

Background: The lack of systematic evaluation of growth disorders results in unnecessary workup for physiological causes while missing pathological causes. We have developed Bone-age assisted interpretation of growth (BIG), a web-based tool that provides guidance for diagnosis and management for children and adolescents with growth concerns.Aim: To develop and validate BIG in growth disorders.<stro...

Background: Data on the neuroradiological findings in Noonan syndrome (NS) are limited.Study Design and participants: Multicentric retrospective observational study conducted in 9 Italian centers of Pediatric Endocrinology. Population includes 112 patients (62 males, 50 females; 73 PTPN11, 8 KRAS, 8 SOS1, 4 LZTR1, 4 RIT1, 4 SHOC2, 3 BRAF, 2 RAF1, 1 ERF, 1 HRAS, 1 MAP2K1, 1 MEK1, 1 PPP1CB, 1 RASA1) with diagnosis of NS ge...

Introduction: Klinefelter syndrome (KS, 47XXY) is the most frequent sex chromosome abnormality in males (prevalence 1/667), with tall stature as one of the key characteristics. We aimed to analyse growth patterns during different growth phases and adult height in KS using the QEPS-model.Methods: Longitudinal growth-data from 35 boys with KS followed at a tertiary Danish center for paediatric endocrinology were compared w...

Introduction: Tall stature (TS) is defined as height taller > +2 SD. Subjects with TS are not usually genetically nor clinically tested unless having a suspicion for a specific disease. Young basketball players used to be healthy children who are exposed to enormous physical stress in trainings and matches.Aims: To evaluate the syndromic features via anthropometric assessment, to reveal possible hidden cardiologic ano...

Background: Current guidelines for girls with gonadal dysgenesis due to Turner Syndrome (TS) recommend initiating estrogen therapy at 11-12 years of age, using 'natural' 17-β estradiol. However, there is scant evidence regarding the optimal modality of induction, particularly concerning whether oral or transdermal routes are more effective or acceptable.Aim: To retrospectively evaluate differences in puber...