ESPE Abstracts

Introduction: The physiological process by which vitamin D regulates calcium and phosphorus metabolism, the major mineral constituents of bone tissue, is by far very well understood. However, the clinical implementation of vitamin D deficiency on bone fragility in childhood remains controversial.Objective: The aim of this case-control study is to investigate the prevalence of vitamin D deficiency among Lebanese children who experienced a ‘low-energy...

Introduction: Dyslipidemia has been recognized as a risk factor for cardiovascular diseases. Studies showed that the development of atherosclerotic lesions begins in childhood and progresses throughout life. While the prevalence of dyslipidemia in adults has been reported to be 10 times higher in Lebanon, there is no available data on the prevalence of dyslipidemic children in Lebanon.Objectives: This study was conducted to check if a protocol for univer...

Background: Vesico-ureteral reflux (VUR) is the most common urologic abnormality seen in children. It represents the backflow of urine from bladder to upper urinary structures due to a defect in closure of uretero-vesical junction. This condition predisposes children to repetitive pyelonephritis associated with renal scarring.Objective: Studies are continuously searching for the potential effect of VUR on growth. We aimed to assess growth indices: height...

Introduction: Hypoglycemia is a common problem in neonatal period associated with adverse neurological outcome and brain injury if treatment was not provided. AAP and PES recommended screening for hypoglycemia only in newborns with risk factors but many others neonates may present episodes of asymptomatic hypoglycemia without any known risk factor.Objectives: To assess the incidence of hypoglycemia in healthy full term neonates without any risk factors i...

Background: Silver-Russell syndrome (SRS) is a heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The major abnormality is the hypomethylation of paternal allele of 11p15 imprinting centre region 1. In 10% of cases a maternal uniparental disomy of chromosome 7 (UPD7) can be detected. Speech delay and learning difficulties have been reported in these patients.Objective and hypothes...

Background and aims: Folate and vitamin B12 are methyl donors (MD) needed for the synthesis of methionine, which is the precursor of S-adenosylmethionine (SAM), the substrate of methylation in epigenetic, and epigenomic pathways. Low dietary intakes of folate and vitamin B12 are frequent, especially in pregnant women and in the elderly, and deficiency constitutes a risk factor for various diseases. The MD deficiency (MDD) leads to a decrease in SAM:SAH (S-ade...

Background: XLHR is due to mutations in the PHEX gene leading to unregulated production of FGF23, hence hypophosphatemia and decreased renal 1,25OH-vitamin D hydroxylation. Amongst other features, XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral 1,25OH-vitamin D, partially or, in some cases, fully restore the limb straightness. For severe or residual limb deformities, orthopaedic surgery may be recommended.Objectiv...

Background: Folate and cobalamin are needed for synthesis of methionine, a substrate of methylation in epigenetic, and epigenomic pathways. Methyl donor deficiency (MDD) leads to hyperhomocysteinemia, which has been related to osteoporosis in humans and disruption of epiphyseal cartilage and bone development in rodents. Recent studies have revealed evidence for association between 25(OH)D3 and homocysteine levels, however, underlying mechanisms remain elusive.<p...

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.Methods: This observational cohort study included all patient...

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...