ESPE Abstracts

Background: Growth patterns in early childhood have profound implications for long-term health outcomes. This study aim ed to compare the growth trajectories of Small for Gestational Age (SGA) and Appropriate for Gestational Age (AGA) preterm infants over the first 60 months of life.Methods: A longitudinal analysis of Z-scores for weight-for-age (WAZ), length-for-age (LAZ), and weight-for-length (WLZ) was conducted on pr...

Background: Small for Gestational Age (SGA) infants, characterized by a birth weight below the 10th percentile for their gestational age, are susceptible to growth challenges. This longitudinal study investigates the postnatal growth of 10 SGA infants with birth weights under 1.5 kg, tracking their Weight-for-Age Z-score (WAZ), Length-for-Age Z-score (LAZ), and Weight-for-Length Z-score (WLZ) for five years.Methods: This...

Background: Growth monitoring of Appropriate for Gestational Age (AGA) preterm infants is critical for the assessment of postnatal developmental progress and health outcomes. This study aims to delineate the postnatal growth patterns of AGA preterm infants with birth weights less than 1.5 kilograms, using Z-scores for length-for-age (LAZ), weight-for-age (WAZ), weight-for-length (WLZ), and head circumference-for-age (HCZ) over the first 60 months of life.<...

Background: Understanding the growth trajectories of preterm Appropriate for Gestational Age (AGA) infants with birth weights under 1.5 kg is crucial for optimizing their long-term health outcomes. This study explores the correlations between various growth parameters over five years to identify predictive markers for future growth.Methods: A longitudinal cohort study was conducted on preterm AGA infants (n = 50...

Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia (PHEX mutation) is the most frequent cause of HH, recent advances in the next-generation sequencing (NGS) techniques enable the identification of various genetic etiologies. Our study aims to determine the molecular etiology of patients with hypophosphatemia and to identify new candidate genes....

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

Background: Vitamin D Dependent Rickets Type IA (VDDR-IA) is the most common type of VDDR and caused by mutations in CYP27B1. Here, we aimed to analyze the genotypic and phenotypic features of our VDDR-IA patients.Materials and Methods: The patients with a clinical diagnosis of VDDR-IA were enrolled and analyzed for CYP27B1 gene mutations.Results: 12 (5 males) pat...

The stimulants that the mother is exposed during pregnancy may affect the baby in the future. Electromagnetic field exposure is an important external stimulus that we are subject to. In addition to the interaction of the earth and the sun with the magnetic field of man; nowadays the intensive use of electrical appliances, computers, mobile phones and internet, how electromagnetic field exposure may affect future generations will only occur in the continuation of our generation...

Central precocious puberty (CPP) in girls is a diagnosis increasingly made by the Pediatric Endocrinologists worldwide. Although it is most frequently of idiopathic origin, magnetic resonance imaging (MRI) of the brain is recommended to rule out organic lesions causing CPP. However, controversy exists regarding the age limits for routinely performing MRI in girls with CPP.Objective: To evaluate the outcome of brain MRI in girls diagnosed...

Beckwith-Wiedemann syndrome (BWS) is a congenital tumor-predisposition syndrome of which around 70% develops because of the methylation defects in the imprinted genes at chromosome 11p15.5. KCNQ1OT1 hypomethylation is the most common underlying genetic aberration in sporadic the BWS, accounting for 50% of the sporadic cases but confers the least tumor risk. We present a 5 month-old girl who presented with an excessive weight gain, cushingoid face, arrested gro...