ESPE Abstracts

Keywords: Preterm newborn, Small for gestational age, Thyroid hormones, Thyroid-stimulating hormone, Thyroid dysfunctions, Thyroid function tests.Background: A common cause of neurodevelopmental impairment in children is congenital hypothyroidism, but can be preventable with adequate screening and proper management. Preterm newborns are more likely to have thyroid dysfunction, with small for gestational age (SGA) being a...

Key words: neonates, hypoglycemia, size for gestational age, gender, mode of delivery.Introduction: Neonatal hypoglycemia is one of the most common treatable metabolic disorders. Universal newborn screening for hypoglycemia is primordial in detecting persistent hypoglycemia and asymptomatic episodes in order to save neonates from adverse neurological outcomes and brain injury.Objectives:</s...

Keywords: Pre-pregnancy BMI, gestational weight gain, pregnancy outcomes, neonatal outcomes.Background: Overweight and obesity epidemic is still expanding, and it is affecting women of childbearing age. Multiple studies have shown unmatched results concerning the effect of Body Mass Index (BMI) besides gestational weight gain (GWG) on pregnancy and neonatal outcomes.Objectives: Thi...

Key words: girls, small for gestational age, thelarche, pubarche, menarche.Background: Small for gestational age (SGA) babies are more prone to have an earlier onset of pubertal development and menarche. We conducted a study comparing the first menarche of small for gestational age (SGA) to appropriate for gestational age (AGA) girl newborns.Objective: The objective of the study is...

Keywords: Retrospective descriptive study, diabetes mellitus type 1, diabetic ketoacidosis, NDS-UMC, Byblos, Lebanon, single-center experience.Background: Type 1 diabetes mellitus (T1DM) increases worldwide especially in the Mediterranean region. Epidemiological studies about T1DM are made in many countries, but Lebanon lacks such data.Objective: This is a descriptive study of demo...

Background: Acrodysostosis Type 2 (ACRDYS2) is a rare autosomal dominant skeletal dysplasia associated with intellectual disability and gain-of-function mutations in the phosphodiesterase type 4D gene (PDE4D) which, in turn, leads to a paucity of intracellular cAMP due to increased PDE4D activity. This increased PDE4 activity may be due to a greater existence of a mutant monomeric form of PDE4D. To date, the clinical use of PDE4 inhibitors in ACRDYS2 has been ...

Objectives: Achondroplasia (ACH), caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), leads to inhibition of endochondral bone growth. Vosoritide is a biological analogue of C-type natriuretic peptide (CNP), a potent stimulator of endochondral bone growth. A Phase 2, open-label, sequential cohort, dose-escalation study was conducted to evaluate the safety, tolerability, and efficacy of vosoritide for 24 months in children with ACH aged 5&#150...

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is worldwide the most common autosomal recessive disorder caused by defects in the CYP21A2 gene.Objective: The main objective of the study was to evaluate CAH in Cyprus over a 10 year period.Methods: All known patients were included in a population retrospective subset analysis of Cypriot patients with confirmed CAH and their clinica...

Background/Aims: Since the introduction of Assisted Reproduction Technologies (ART), including classic In Vitro Fertilization (IVF) and Intacytoplasmic Sperm Injection (ICSI), in clinical practice, several studies have addressed concerns regarding the long-term health of the offspring, revealing indications of an adverse cardiometabolic outcome. Proprotein convertase subtilisin/kexin type 9 (PCSK9) circulating level is significantly associated with an increased risk of cardiov...

Background: FOXE1 gene variants containing alterations in the alanine tract length may confer susceptibility to primary ovarian insufficiency (POI). BMP15 gene variants have also been related to POI.Objective and hypotheses: To evaluate the contribution of FOXE1 and BMP15 variants in the pathogenesis of POI and to investigate the hypothesis of digenic inheritance in this disorder.Method: FOXE1 and BMP...