ESPE Abstracts

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

Background: Birth weight (BW) is often used as a proxy for gestational age (GA) by studies on preterm birth. Recent data indicate that the terms very-low-birth-weight (VLBW; BW <1500 g) and very preterm (VP; GA <32 weeks) birth are not equivalent with regard to perinatal outcomes and postnatal growth up until final height. It is unknown whether the differences between these terms could be extended to long-term neurodevelopmental outcomes.Objectiv...

Background: Preterm newborns are at risk of becoming transiently hypothyroxinaemic, which has been associated with neurodevelopmental impairments in childhood. It is not known whether these associations persist into adulthood.Objective and hypotheses: We studied the relation between transient hypothyroxinaemia of prematurity and IQ, neuromotor functioning and problem behaviour at young adult age.Method: This was a prospective study...

Responsiveness to recombinant human growth hormone (rhGH) treatment in Turner syndrome (TS) is highly variable. Previous research has characterised genetic variants associated with rhGH response but these only have a minor impact. The relationship of these genetic variants to the blood transcriptome is unknown. The aim of this analysis was to relate unsupervised baseline blood transcriptome and genetic data from TS patients to their phenotype, karyotype and responsiveness to r...

The ‘Developmental Origins of Health and Disease’ (DOHaD) hypothesis encapsulates the relationship between pre- and perinatal exposures causing altered growth and the development of later life disease. Mediators of this relationship have not been fully defined. We have used zebrafish [ZF] (Danio rerio) as a potential model for DOHaD, modifying expression of grb10a, an adapter protein that interacts with the insulin and IGF receptors, to act as a negative r...

Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondropla...

Background: Preterm survivors are found to exhibit deficits in several neurodevelopmental domains. It is unknown whether this could be explained by antenatal glucocorticoid treatment.Objective and Hypotheses: We studied whether antenatal glucocorticoid treatment is associated with behaviour and IQ in young adults born preterm. In addition, we studied whether these associations could be modified by the R23K and N363S polymorphisms in the glucocorticoid re...

The aim of this study was to assess the impact of meal size on glycemic control for T1D adolescent patients equipped with Diabeloop’s Closed Loop, DBLG1 System[1], based on data from the clinical trial NCT04190277. Among this dataset we isolated 37 adolescents. Only days with ≥70% available CGM data and >50% of time in closed-loop were included in the analysis, resulting in an average duration of 18 days per patient for a total of 668 days of treatment. To asses...

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...