ESPE Abstracts

Background: Trisomy 21 is associated with an increased susceptibility to respiratory infections.Objective and hypotheses: For a more detailed characterization of the adaptive immune response, we analyzed the cellular and humoral immunity to specific pathogens in blood samples of 40 children with Down’s syndrome in comparison to 51 age-matched controls.Method: We quantitatively analyzed lymphocyte subpopulations using flow cyto...

Background: Hypertension is the leading cause of cardiovascular disease worldwide and both high and low blood pressures are associated with various chronic disease. Thyroid hormones have profound effects on cardiovascular function, including effects on blood pressure.Objective and hypotheses: Recent studies suggest that early life high blood pressure could be attributed to hypertension in late adulthood. Therefore, we aimed to investigate the association...

Background: Growth hormone deficiency (GHD) is the most common endocrine cause of impaired growth. Recombinant human GH (rhGH) therapy does not always achieve complete catch-up growth or final height within the genetic target height despite standardised treatment guidelines. The factors causing the considerable variability in responsiveness to rhGH have not yet been fully elucidated. Apart from a number of auxological and clinical parameters, genetic factors also appear to pla...

Introduction: Kisspeptin is well known gatekeeper of puberty onset to date. However, several neuroendocrine factors are also discovered to be associated with puberty onset and, especially neuropeptide Y (NPY) and neurokinin B, participate in the neuronal network integrating reproduction. However, the interactions between neuroendocrine factors and the reproductive axis have not yet been fully explored. We report herein the expression profile of NPY gene and neurokinin B gene i...

Background: Congenital hyperthyroidism is a rare disease. In most patients with congenital hyperthyroidism are autoimmune forms caused by maternal thyroid-stimulating antibodies. In contrast to autoimmune hyperthyroidism that is transient, nonautoimmune form of congenital hyperthyroidism is persistent and results from activating germline mutations in the thyrotropin receptor (TSHR) gene.Case presentation: We report the case of a Korean male infant with s...

Purpose: We investigated uric acid reference values and their association with cardiometabolic risk among children and adolescents using the Korea National Health and Nutrition Examination Survey (KNHANES).Methods: A total of 2,462 participants, aged 10-18 years, from the KNHANES 2016-2018 were included.Results: Serum uric acid (SUA) levels varied with sex and age. In male subjects...

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

Purpose: Bisphenol A (BPA) is endocrine disrupting chemicals used to manufacture plastics such as epoxy resins and polycarbonate polymers. BPA has weak estrogenic and strong anti-androgenic effects and has also been linked to disruption of thyroid function in previous studies. This study aims to investigate the relationship between urinary bisphenol A exposure in early childhood and thyroid hormone of pubertal children in Korea.M...

Background: Pediatric thyroid cancer has characteristics that are distinct from adulthood thyroid cancer. Due to its very low prevalence, little is known about the genetic characteristics of pediatric follicular thyroid cancer (FTC).Methods: We investigated genetic alterations in tumor tissues from 15 patients aged < 20 years (median: 14.3 years; range: 2.4-19.0 years) using multifaceted approaches. Whole-exome seque...

Purpose: This study aimed to analyze growth patterns during the first two years after birth according to the birth weight and length percentile in children born preterm, and to investigate factors affecting postnatal growth of these children.Methods: Eighty-two preterm neonates with a gestational age below 37 weeks who followed up until 24 months of corrected age (CA) were retrospectively reviewed. Length, weight and hea...