ESPE Abstracts

Objectives: The aim of the present study was to determine the effects of neuropeptide, neurokinin B (NKB) and amyloid beta fragment Aβ (25-35) on 17β estradiol (E2) treated aging female rat brain of 3 months (young), 12 months (adult) and 24 months (old) age groups.Methods: The aged rats (12 and 24 months old) were given subcutaneous injection of E2 (0.1 µg/g body weight) for 30 days. Synaptosomes we...

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).<p class="abst...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

Background: Patients with rare monogenic obesity caused by biallelic variants of genes such as proopiomelanocortin (POMC; including variants in PCSK1) or leptin receptor (LEPR) deficiency, experience hyperphagia (a pathologic, insatiable hunger) and early-onset, severe obesity. This suggests potential increased risk over time of obesity-related comorbidities, including metabolic syndrome, a cluster of conditions associated with increased risk of cardiovascular...

Growth hormone (GH) stimulates insulin like growth factor I (IGF I) release. IGF-I is the standard biomarker for monitoring GH effects during treatment and to achieve optimal long-term safety, and to a limited extent, monitor efficacy in children with GH deficiency (GHD). The IGF I profile during treatment with a long acting GH (LAGH), such as once weekly somapacitan (Novo Nordisk), differs from the daily GH profile by exhibiting larger peaks and troughs over the dosing interv...

Purpose: To investigate overall characteristics of glucose intolerance in childhood survivors of hematologic diseases and suggest risk factors which increase A1c (glycated hemoglobin) level.Methods: Based on a retrospective review of 394 children who were diagnosed with acute leukemia or aplastic anemia between 2015 and 2016 under the age of 15, glucose intolerance was observed in 14 patients. A definition of glucose intolerance was A1c above 5.7%. Auxol...

Purpose: To analyze the effects of clinical and laboratory factors, including insulin-like growth factor (IGF) levels, on the height velocity of normal prepubertal children.Methods: Ninety-five healthy prepubertal children (33 boys, 62 girls) were enrolled. The mean chronological age of the participants was 6.3±1.4 years, with a height standard deviation score (SDS) of −0.88±0.70. IGF-1, IGF binding protein-3 (IGFBP-3), SDS for anthropome...

McCune-Albright syndrome (MAS) is a rare disease defined by the triad of precocious puberty (PP), café au lait spots, and fibrous dysplasia (FD). There are only a few patients with MAS in Korean because of the rarity of this disease. We reported the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. It is a retrospective cohort study of patients’ clinical data including about peripheral PP, FD. Also, treatment experie...

The aim of this study was to investigate that exposure metabolites of phthalate one of the endocrine disruptors might be different in sex and might have influenced from obesity and insulin resistance in Korean children and adolescents. Nationwide data of 551 subjects aged 8-15 years (boys 281 and girls 270) who were included the study from 2010-2011. Subjects were grouped by sex and BMI percentile (normal: BMI<85p; overweight: 85P≤BMI<95p; obese: ≥95p). We...