ESPE Abstracts

Background: Interleukin-6 (IL-6) is a proinflammatory cytokine associated with obesity, insulin resistance, hypertension, and atherosclerosis in adulthood. Few studies have been conducted in healthy young children. We aimed to investigate whether IL-6 levels are associated with cardiometabolic risk factors in healthy 4-year-old children.Methods: From a prospective cohort study named Environment and Development of Children (EDC) cohort, a total of 421 sin...

Purpose: Growth hormone (GH) treatment has become common practice in Turner syndrome (TS) to improve final adult height. However, there are only a few studies on the analysis of good responders to GH treatment in TS. The aim of this study is to predict the responsiveness to growth hormone therapy in Turner syndrome.Methods: Among 197 TS patients registered in LG Growth study, 92 patients were excluded because of systemic illness or hypothyroidism. The cl...

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-...

Introduction: Our Centre is an international referral centre for genetic analysis of children with short stature (SS) and features of GH/IGF-1 resistance. Following candidate gene and whole exome sequencing, diagnoses for ~50% patients remained elusive. Copy number variation (CNV) has not previously been investigated in GH/IGF-1 resistance and we hypothesised that CNVs contribute to the phenotype in our undiagnosed cohort.Experimental Design and Methodol...