ESPE Abstracts

Background: Children with bone-age advancement without any pubertal sign (asymptomatic precocious puberty, asmyptomatic PP) were reported (CW Ko,et al, at the Annual Meeting of ESPE, 2012 and 2013).Objective and hypotheses: In our follow-up study, some more children with asmyptomatic PP were enrolled additionally. We analysed their clinical and laboratory characteristics at the time of diagnosis, and they were followed-up prospectively t...

Objectives: Owing to the tremendous advances in next-generation sequencing technology, numerous monogenic causes of growth disorders have been identified. Identifying novel rare genetic causes of short stature (SS) is quite challenging. In 2017, we reported a mutation analysis of 15 patients with undiagnosed syndromic SS or overgrowth. In this study, 6 mutations in another 10 Korean patients with unexplained syndromic SS are reported. The aim of this study is ...

Introduction: Early onset diabetes mellitus (DM) presents a challenge in pediatric clinical settings, often necessitating comprehensive genetic investigation to understand underlying causes and tailor management strategies. This study aimed to elucidate the genetic basis of early onset DM through whole exome sequencing and assess its clinical relevance.Methods: Between July 2022 and May 2024, we conducted a prospective s...

Background: As the human genome is further explored, multiple genetic anomalies at different loci are being found that confer varying degrees of predisposition to diabetes. MODY is the most common form of monogenic diabetes, accounting 2–5 percent of diabetes. Recently, we have found and reported three noble gene variants relating to MODY in Korean children (Shim et al, Horm Res Pediatr, 2015).Objective and hypotheses: This study was done to see the...

Objective: To analyze the genetic cause of congenital hypothyroidism by targeted exome sequencing in pediatric patients with congenital hypothyroidism with thyroid gland in situ.Patient and Method: The study population comprised 20 patients with thyroid gland, who were diagnosed with congenital hypothyroidism at Pediatric Endocrinologic Clinic of Pusan National University Hospital. Targeted exome sequencing was ...

IGFALSgene is located in chromosome 16p13.3 encoding acid labile subunit which binds insulin-like growth factors (IGFs) to increase their half-life and vascular localization. The biallelic defect of this gene leads to acid-labile subunit deficiency characterized by postnatal growth retardation, insulin resistance, delayed puberty, and no growth hormone deficiency. A 5-year-old-boy was referred to as low IGF-1 and cortisol level. He presented with obesity and growth re...

Background: Experimental models suggest that exposure to low dose nonylphenol could induce adiposity and promote adipocyte differentiation in mice. However, studies on the effect of nonylphenol exposure to human obesity have not been adequately studied.Objective: We investigated the associations of serum nonylphenol concentration with adiposity measures in Korean children and adolescents.Me...

Introduction: Treatment with recombinant human growth hormone (rhGH) is useful for growth failure in short stature children. But there are some reports of renal disease or complication occurring during rhGH treatment. GH and insulin-like growth factor-1 (IGF-1), together with other growth factors and cytokines, have important roles in adaptive morphological and functional changes in the kidney. This study was aimed to reveal the renal complication of hematuria...

Background: Leptin is mainly produced by adipocytes. In animal and human, it is a potnet anorectic and increases in obesity. Some reported that precocious puberty is prevelent in children with obesity.Objective and hypotheses: This study was done to see the changes of blood leptin levels in both obese and non-obese children with early puberty or precocious puberty.Method: Study patients consist of 325 children with early puberty or...

Background: Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay, neurological problems and an increased risk of neoplasia. The genetic basis for many of these conditions is being increasingly elucidated. Here, we report on a 3-year-old boy who was referred for evaluation of generalized overgrowth.Objective and hypotheses: Our hypotheses is that unclassified...