ESPE Abstracts

Objectives: To assess the long-term impact of prematurity on bone and body composition by using Dual-energy X-ray absorptiometry (DXA).Methods: DXA scans were performed in 100 preterm (PT) (n=42F, n=58M, mean weeks’gestation 31.5±2.6; range 26−36) and 51 born at term (BT) healthy infants (n=28F, n=23M). DXA measures of total body and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and Z...

Background: Continuous glucose monitoring (CGM) correlates with optimal control in both children and adults with type 1 diabetes (T1D) regardless of type of treatment. CGM plays a major role in decreasing the time spent in hypoglycemia and hyperglycemia, and achieving better quality of life.Aim: To evaluate the usage and benefits of out-patient CGM and assess parents’ attitudes to it at a non-reimbursed setting.Methods: A tota...

Background: Prevalence and severity of obesity and associated comorbidities are increasing in adolescents. Data on neck and upper arm (UA) circumference in addition to established anthropometric measures to define cardiometabolic risk are limited to date.Methods: Data from Phase I of the EU-funded PreSTART-study (trial registration number NCT02545140) was applied. Demographic, clinical, biochemical and lifestyle data were collected in adolescent...

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

Background: Signaling through the phosphoinositid-3-kinase (PI3K) pathway modulates bone development and remodeling. We aimed to dissect the role of phosphatase and tensin homolog (Pten), a negative regulator of PI3K signaling, in osteoprogenitor cells.Methods: Femura, tibiae and bone marrow stromal cells (BMSCs) from mice with Cre-inducible Pten knockdown in cells expressing the transcription factor Osterix (Pten cKO) a...

Obesity presents a major worldwide challenge, due to its numerous, severe adverse effects on health. This leads to a necessity to further investigate the mechanisms underlying lipid accumulation. The adipocytokine leptin may contribute to this process. While there already has been thorough research into central leptin action, deepening our understanding of leptin’s effects on whole-body energy homeostasis, relatively little is known about its auto- and paracrine effects....

In the history of biosynthetic GH, first prediction models on long term outcome of therapy were based on large multinational cohorts of various growth disorders and have concentrated on GH dose. In this study we analyzed the 1st year and final height (FH) data in a large single center cohort (center of expertise for rare growth disorders) and compared patient outcome and predictions in GHD and SGA. Our aim was to predict treatment outcome using simple previously suggested para...

Background: Neurofibromatosis 1 (NF1) is a clinically heterogeneous genetic condition caused by the mutation of the NF1 gene. Individuals with NF1 have an increased risk of developing tumours, both benign and malignant. The most characteristic are plexiform neurofibromas, occurring in almost all patients. Other manifestations include café-au-lait macules, ocular involvement, intertriginous freckling, and learning disabilities or behavioural problems. Th...

Classic features of inactivating PTH/PTHrP Signaling Disorder 2 or 3 (iPPSD2, iPPSD3), i.e. former pseudohypoparathyroidism include multi-hormone resistance, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity and a molecular defect at the GNAS region. In addition, patients may present with less-known features including craniosynostosis (CSO).Objective: To describe the prevalence of CSO in a cohort ...

Disorders/differences in sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. 46,XY DSD include defects in androgen synthesis or action or complete (CGD)/partial (PGD) gonadal dysgenesis. The aim of this study was to characterize the molecular genetic diagnosis of individuals with 46,XY DSD followed at Garrahan Pediatric Hospital.Medical records of 140 patients (P) followed...