ESPE Abstracts

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...

The gastrointestinal (GI) tract is the body's largest endocrine organ producing hormones that have important sensing and signaling roles in the regulation of energy homeostasis and immune mechanisms.Objectives and Methods: We performed electronic literature systematic review using PubMed, Google Scholar, and Web of Sciences with the aim of providing an update on the changes occurring in gut hormones (Ghrelin, GLP-1 and PYY, insulin,...

Background: Adipose tissue plays a central role in regulating whole-body energy and glucose homeostasis through secreting hormones that regulate multiple functions at both organ and systemic levelsObjectives and Methods: We performed electronic literature systematic review using PubMed, Google Scholar, and Web of Sciences with the aim to provide an update on the link between adipocyte hormones and the immune system in in...

Introduction: A recent review from 14 Mediterranean and Middle East countries (n=4477, mean age = 16.5 years) showed that the pooled prevalence of delayed puberty / hypogonadism in patients with BTM was 45.6%.Objectives: We reviewed the literature (Pubmed, Google scholar, Scopus, Research gate) (1995: 2022) on the consequences of hypogonadism and benefits of Sex Steroid therapy (HRT) in children and adolescents ...

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 ...

Introduction: Growth Hormone Deficiency (GHD) with concomitant IGF1 resistance presents a complex diagnostic challenge, often featuring a constellation of growth, developmental, and neurologic findings. This case report presents a 6-year-old female with short stature, speech delay, and an abnormal genetic microarray indicative of IGF1 resistance, contributing to a unique clinical presentation.Case Presentation: I.N., a 6...

Background and aims: Early puberty (EP) in girls, characterized by the onset of thelarche between 6 and 8 years of age and/or rapid pubertal progression, remains a topic of debate. This study aims to assess the clinical and hormonal characteristics of girls with early and fast puberty (FEP) and their response to treatment with GnRH analogs (GnRHa) on growth, pubertal progression, and bone maturation.Methods: Data from 22...

Introduction: Understanding the growth outcomes and management strategies in Salt-Wasting Congenital Adrenal Hyperplasia (SW-CAH) is crucial for optimizing patient care.Objective: We review and synthesize the evidence on growth patterns and final adult height outcomes in pediatric patients with SW-CAH, focusing on the effects of different management strategies including glucocorticoid treatment, growth hormone (GH) thera...