ESPE Abstracts

Backgrounds: Sitosterolemia is an inborn error of sterol metabolism caused by pathogenic variation of ABCG5 or ABCG8. It is characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis; however, it is likely to be underdiagnosed in the clinical field. This study aims to describe the genetic variance of clinically confirmed patients with sitosterolemia and analyze the clinical spectrum according to genetic variance.<p class="ab...

Background: The Korean National Health Insurance Service has started reimbursing the cost of continuous glucose monitoring (CGM) in type 1 diabetes (T1D) in 2019. We investigated the effect of CGM use on glycemic control among Korean children, adolescents, and young adults with T1D in a real-world setting.Method: We retrospectively reviewed the medical records of childhood-onset T1D patients aged < 30 years (n</em...

Background: The achievement and maintenance of normoglycemia is one of the most important goals to prevent both short and long-term complications in type 1 diabetes mellitus (T1DM). As carbohydrate acts as the primary macronutrient affecting postprandial glycemic response, carbohydrate counting is crucial in adjusting prandial insulin doses to preserve postprandial blood glucose within normal limits. The purpose of this study is to examine the effect for carbo...

Introduction: Genes on the X chromosome (BMP15, FMR1) and autosomal chromosomes (FOXL2, RSPO1, WNT4) are known to influence ovarian development. 46,XX gonadal dysgenesis is a rare disease caused by chromosomal abnormalities, genetic mutations, and postnatal ovarian damage, leading to premature ovarian failure.Case Report: A 16-year-old female presented with primary amenorrhea and poor breast development. She was born at ...

Introduction: The Kiss1/Kisspeptin/Kiss1r system is essential for puberty onset and reproductive system development, especially in the hypothalamus. Nevertheless, Kiss1 is expressed in other organs. Additionally, serum kisspeptin has been associated with puberty. However, studies on the developmental changes in serum kisspeptin levels and its main source are limited. Therefore, the aim of this study was to evaluate the developmental ...

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action and a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. FGFR1 mutations have been identified in about 3–10&#3...

Background: Insufficient data exist for the prediction of the first-year response to growth hormone (GH) treatment in Korean prepubertal children with idiopathic GH deficiency (GHD).Methods: Data from children (n = 345) who were in the LG Growth Study Database or had participated in other relevant clinical trials were used to develop a model. All included patients had been diagnosed with idiopathic GHD with maximum G...

Purpose: Multiple endocrine neoplasia (MEN) is a rare, autosomal dominantly inherited cancer syndrome caused by a mutation in MEN1 or RET gene. Identification of the genetic causes of the MEN is critical because genotype provides information on timing of prophylactic surgery in patients with MEN type 2 who have clinically silent tumors. Therefore, this study investigated clinical phenotype and molecular characteristics of children with MEN in...

Purpose: Type 1 diabetes mellitus (DM) is the most common cause of diabetes in children and adolescents. Prevalence of monogenic DM is estimated for about 1%–5% of all patients with DM. Overlapping clinical features of various forms of diabetes make differential diagnosis challenging. This study was performed to investigate frequency and genetic etiologies of monogenic diabetes in a single academic center.Methods: This study included 466 consecutive...

Background: Humans are exposed to a variety of endocrine disruptors (EDs), including phthalates and phenol substitutes, in daily life. Previous studies have suggested the association between individual EDs and the risk of obesity, however, studies on the effects of multiple EDs have been extremely limited. We investigated the associations of urinary 12 phthalates, 3 polycyclic aromatic hydrocarbons, and 26 phenol substitutes with adiposity measures in Korean girls.<p class...