ESPE Abstracts

Inborn Errors of Immunity (IEI) include more than 400 disorders representing aberrant function or development of the immune system. Recently, more attention has been paid to the interaction between the immune and endocrine systems. In this study, we aimed to investigate endocrine disorders in a cohort of IEI. We investigated the prevalence, clinical, and laboratory features of endocrine disorders in patients who were diagnosed with IEI from 1994 to 2022 in Samsung Medical Cent...

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...

Objective: This study aimed to compare clinical parameters, including final adult height (FAH), in girls with central precocious puberty treated with gonadotropin-releasing hormone agonists (GnRHa) with and without growth hormone (GH).Methods: This retrospective study reviewed data of 210 girls with precocious puberty who had reached FAH in a long-term trial of GnRHa treatment. The subjects were divided into the GnRHa tr...

Purpose: Noonan syndrome (NS) is a genetic disorder characterized by specific features including short stature, cardiac defect, and distinctive facial dysmorphism. Human growth hormone (GH) has been used to improve growth in children with NS but there is little information how GH treatment affects height. The aim of this study is to investigate efficacy of GH treatment in Korean children with NS compared to sex and age-matched patients with growth hormone defi...

Objective: To determine the effect of gonadotropin-releasing hormone agonist (GnRHa) treatment on auxological outcome of Korean boys with central precocious puberty (CPP) and early puberty (EP).Methods: This study included 11 boys with CPP and 8 boys with EP who were treated with GnRHa for at least 2 years at the Pediatric Endocrine Unit of Ajou University Hospital from March 2003 to December 2015. All nineteen boys atta...

Background: Gynecomastia develops due to the reversed estradiol-to-Testosterone ratio in adolescence, and symptoms typically improve within two years. The causes vary widely, including estrogen excess and tumors, and surgical treatment is usually given in late adolescence because postoperative symptoms may recur in adolescents. There are no guiding recommendations for gynecomastia to date besides the suggestion to consider rapidly growing gynecomastia and brea...

Background and objectives: A positive association between birth weight and BMI among children and adolescents has been shown in many populations. Several studies have indicated that breastfed children have lower risk of childhood obesity. Therefore, the aim of this study was to investigate the BMI trajectory according to birth weight status and protective effect of breastfeeding on overweight/obesity prevalence in children 6 years of age.Methods: A retro...

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...

Hyponatremia with hyperkalemia in infancy may be seen in many endocrinologic and metabolic disorder such as congenital adrenal hyperplasia, congenital adrenal hypoplasia, and other forms of hypoadrenalism in infancy. Here, we report a infants who presented with hyponatremia with hyperkalemia finally diagnosed as pseudohypoaldosteronism (PHA) due to urinary tract infection (UTI) with reflux nephropahy. A 5-month-old female initially was transferred for poor weight gain for 2 mo...

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...