ESPE Abstracts

Bacground and objective: Idiopathic infantile hypercalcemia is one of rare diseases characterizing hypercalcemia in infancy. Renal phosphate absorption in proximal tubules plays a very important role in the phosphate and calcium homeostasis. SLC34A1 is known a key regulator of renal phosphate reabsorption. SLC34A1 gene mutation is one of very uncommon causes of idiopathic infantile hypercalcemia. We have experienced a case of idiopathic infantile hypercalcemia caused by a homo...

Background & objective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by an early onset, autosomal dominant mode of inheritance and a primary defect in pancreatic β-cell function. MODY has been identified in Asian populations, however, there is a big discrepancy in the genetic locus between Asian and Caucasian patients with MODY. We previously reported that mutations in PTPRD, SYT9 and WFS1 have been identified in Ko...

Background and objective: It has been reported that glycemic control gets better in children with T1DM on insulin glargine and lispro when compard to patients on NPH and RI. This study was conducted to see the changes of glycemic control after switching from insulin glargine and lispro (GLAR/LIS) to NPH and RI (NPH/RI) in Korean children with T1DM.Materials and methods: We studied 14 patients who were diagnosed with T1DM in Kyungpook National Children&#1...

Background and objective: The peak GH value plays a crucial role in the diagnosis of idiopathic growth hormone deficiency (iGHD). However, the prediction of peak GH in iGHD diagnosis is known to be limited. The purpose of this study was to evaluate the clinical and diagnostic usefulness of the total sum of GH values obtained from the GH stimulation test.Materials and methods: We retrospectively reviewed 178 prepubertal children who were diagnosed with iG...

Background & objective: The occurrence of CPP seems to be increasing in our clinical practice thesedays. It is known that CPP causes socio-psychological disturbances relating to early pubertal changes and finally leads to a significant decrease in the final adult height because of premature closure of the growth plate. This study was conducted to see major factors affecting to the bone maturation, which is closely related to the final adult height in girls with CPP.<p ...

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...

Background: Maturity-onset diabetes of the young (MODY) is one of monogenic diabetes caused by a single gene defect. To date, 13 MODY genes have been identified. However, there is big discrepancy in genetic locus between the Asian MODY patients and Caucasian’s one.Objective and hypotheses: We conducted the whole exome sequencing in Korean clinical MODY families to identify novel variants for MODY and compare the result with Caucasian’s one....

Gender uncertainty is stressful condition for children and their families. Gender assignment in children with disorder of sex development (DSD) is considered as a medical emergency. Influencing factors to consider when debating gender assignment include medical diagnosis, external genital appearance, potential of fertility and sexual, therapeutic and/or surgical intervention options, views and desires of patients and families, situation of social-cultural factors, the psycholo...

Objectives: The obesity in population of children and adolescents is one of the biggest public health problems in word today. Early childhood obesity with cluster of metabolic disorders (insulin resistance, impaired glucose tolerance, dyslipidemia and hypertension) are risk factor for cardiovascular morbidly and mortality later in life. Catestatin is a Chromogranin A derived peptide which reduces hepatic/plasma lipids, plasma insulin, improves insulin sensitivity, reduces hype...

Background: Congenital combined pituitary hormone deficiency (CPHD) has various clinical presentations and can be caused by genetic defects related to pituitary development. We investigated the clinical features and genetic analysis in Korean patients with congenital CPHD.Method: Among 444 patients diagnosed with CPHD between 1994 and 2021 from Seoul National University Children’s Hospital, 43 patients with congeni...