ESPE Abstracts

Background: Obesity rates in children and adolescents have increased dramatically across the globe, and the lifelong impact of obesity is more severe when onset begins at ≤20 years of age. However, the experiences, challenges and needs of adolescents living with obesity (ALwO), their caregivers, and the healthcare providers (HCPs) who treat them are poorly understood. ACTION Teens, the first study of its kind, aims to improve the lives of ALwO by generat...

Keywords: children, primary osteoporosis, next-generation sequencingBackground: Primary osteoporosis (POP) is a rare bone fragility disorder of childhood and is mainly related to osteogenesis imperfecta (OI). However, patients without clinical OI features with recurrent long bone and/or vertebral fractures who comply with the osteoporosis criteria are considered to have non-OI POP. Diagnosis and classification of non-OI ...

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...

DNA ligase IV (Lig 4) deficiency (MIM #606593) is a rare autosomal recessive disorder related with impaired DNA damage-response mechanisms. Lig 4 syndrome has a broad clinical presentation; microcephaly, facial abnormality, sensitivity to ionizing radiation, combined immunodeficiency, progressive bone marrow failure and predisposition to malignancy. We describe the patient with Lig4 syndrome presented lissencephaly, growth failure and hypogonadism. The patient is a 18-years-ol...

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...

We evaluated the effect of GFD on the growth of children with the classical form of CD on long-term GFD (> 2 years).Methods: We studied growth parameters (weight gain/day, BMI and BMISDS, HtSDS) and lab data for 30 prepubertal children aged 8.5 years +/−3 years with CD, who were on GFD since the age of 3.4 years +/−2.6 years (> 2 years on GFD) for duration of 1 year. The anthropometric data of 30 randomly sele...

Introduction: Because of the associations and links between abnormal placental weight and both fetal and maternal disorders, it is important to have the national normal standard for placental weight as a normality reference.Aims: To find out the national placental weight standards for babies born between 37th and 43rd weeks of gestation in all groups of males and females babies born AGA, SGA, and LGA.<p class="abstex...

Introduction: Many potential factors can affect or be influenced by placental size. These include gestational age, maternal age, race, socioeconomic status, and gender of the baby.Aim: We investigated the possible association/s between placental weight on the one hand and birth weight, gestational age, maternal age, and gender of the baby in a large cohort of newborns (n = 80722)Me...

Background: Fanconi Bickel syndrome (FBS) is a rare form of glycogen storage disease (GSD) inherited in an autosomal recessive manner and caused by mutations in the SLC2A2 gene leading to the loss of GLUT2 glucose transporter expression. The disease is considered to be rare in which a little more than 100 cases have been reported in the literature. The SLC2A2 gene encodes for GLUT2, a low affinity facilitative glucose transporter expressed in critical tissues ...

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...