ESPE Abstracts

Introduction: In diabetic pregnancies, data about the interaction between maternal, placental, and fetal IGF1/IGFBP in relation to newborn size is not clear,Aim: To review research papers published in Pubmed, Google scholar, Research gate, and Scopus in the past 20 years on the relation between placental IGF1/IGFBP-1 and fetal/infantile/childhood growth in pregnancies associated with maternal diabetes.<p class="abste...

Background: Congenital hyperinsulinism in infancy (CHI) is the most frequent cause of persistent hypoglycemia in infants. The most common and severe form of monogenic CHI is caused by inactivating mutations in ABCC8 and KCNJ11 genes located on chromosome 11p15.1. On the ABCC8 gene; previous studies have shown that mutations were reported to be mostly localized in exon 28. There is no sufficient research in Egyptian population about different mutations in conge...

Introduction: Stimulated GH peak values have been shown to correlate well with nocturnal GH peak values and with nocturnal mean GH values. In addition, the expression level of serum IGF-1 in ISS has been shown to be significantly lower than that in normal children despite their normal GH peak response to provocation. GH stimulates the production of IGF1; however, their metabolic effects are different. GH has lipolytic and anti-insulin actions while IGF1 has in...

Introduction: The 22q11 deletion is one of the most commonly recognized deletion syndromes in humans (~ 1/4000 live births). Most of the reported defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome. In deletion syndromes, the phenotype ranges from unspecified dysmorphic features to severe cognitive/behavioral deficits, but normal features can occur depending on the size and amount of gene dosage...

Background: Data about placental weight (PW) in relation to birth weight (BW) and gestational age (GA) are lacking in Arab countries.Objectives: To report the specific centile charts of PW/BW ratio in a large cohort of mother/baby pairs (n= 80277) born between 37th and 42nd weeks of gestation in relation to neonatal growth characteristics and gender.Methods: Retrospective ...

Background: Very Low birthweight (LBW) is defined as birthweight below 1.5 kg) and compared to AGA they are reported to be at a higher risk to develop slow postnatal growth outcomes.Objectives: To describe the postnatal growth of 120 VLBW newborns who had birth weight < 1.5 kg. linear growth trajectories of VLBW infants were compared with normal infants (WHO curves) during the first 24 months of life.<p class="abs...

Keywords: Endocrine, Non-cystic fibrosis bronchiectasis, Interstitial Lung Disease (ILD)Introduction: Recent evidence shows that there is association between different endocrinal disorders and the pathogenesis of chronic lung diseases. These disorders have an impact on quality of life and management of these diseases.Aim of work: Assess the correlation between two chronic lung dise...

Hutchison-Gilford progeria syndrome (HGPS) is a rare genetic disorder which is characterized by aging fast in affected individuals. The prevalence of HGPS is around of 1 in 20 million approximately. The exact etiology is not very well known, However it is believed to be an autosomal dominant disorder that occurs due to point mutations in lamin A (LMNA) gene. In this case report we share the challenges of being the first presented case in Oman. A 6 years old Omani boy diagnosed...

Background: The growth and development of human tissues are critically regulated by the Insulin-like Growth Factor 1 Receptor (IGF1R) and its ligand IGF-1. Mutations in the IGF1R gene and less frequently in the IGF1 gene are associated with a heterogeneous group of growth disorders, manifesting as intrauterine and postnatal growth retardation.Literature Review: In this review, 30 published papers were analyzed, giving a ...

Background: GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein–coupled receptor (GPCR) signaling. Mutations in GNAS are known to cause pseudohypoparathyroidism (PHP). Children with this condition are overweight, have learning difficulties, are often short and have skeletal changes and hormone resistance.Case report: We-herein-report a 6-month-old mal...