ESPE Abstracts

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

Background: okur-chung neurodevelopmental syndrome was confirmed to be associated with developmental disorders attributed to germline CSNK2A1 pathogenic missense variants. Only 26 cases and 22 kinds of genotype have been reported in the world so far. All reports highlighted the recognizable facial features of the syndrome as well as frequently occurring clinical features including neurodevelopmental delay, short stature, gastrointestinal, musculoskeletal and i...

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...

Study of response to vitamin D replacemet in North Korean refugee children and Korean childrenMyung Hee Chung, MD., Ph.DDaegu Medical Center, Daegu Metropolitan city, KoreaJung Hup Song, MD., Ph.DKyungpook National university hosptal,Occupational Medicine, Public Health Dept.,Daegu, KoreaPurpose: It is well known that obesity and ...

Purpose: A decline in the age of pubertal onset and increases in the prevalence of central precocious puberty (CPP) have recently been widely reported throughout the world. Based on national population data, this study was conducted to analyze Korea's CPP incidence rate.Methods: Between 2012 and 2020, data from the Korean national health insurance service for girls aged 8 years and younger and boys aged 9 years and ...

Purpose: Childhood obesity epidemic leads an interest of pre-stage of hypertension; higher/elevated blood pressure (BP) status which BP numbers are lower than the criteria for diagnosing hypertension. In 2017, the clinical practice guidelines for pediatric BP management were published separately by Endocrine Society (ES) and American Academy of Pediatrics (AAP). The aims of this study are to evaluate the prevalence of elevated blood pressure (EBP) including hy...

Background: Severe hypertriglyceridemia, defined as triglyceride concentration greater than 11.2 mmol/L, predisposes to acute pancreatitis, a serious complication with mortality rate as high as 6.5% in children (1).Our case highlights the use of insulin infusion to rapidly lower the triglyceride level and the long term management in a young infant with familial chylomicronemia syndrome (FCS) due to lipoprotein lipase deficiency.<stro...

Introduction: LADY (latent autoimmune diabetes in youth) have been proposed in younger type 2 DM with presence of beta cell autoantibodies like LADA in adult. LADA patients showed greater complication risk in the later course of disease compared with type 2 DM. When we see the LADY and the LADA in an age-related continuous spectrum, LADY will have more adverse results than type 2 DM. And a large number of LADY is expected as diabetes related autoimmunity in yo...

A full-term baby girl born with birth weight of 2.75 kg (10th–25th percentile) had an uneventful perinatal course and no history of gestational diabetes. She was admitted to nursery on day 4 for poor feeding. Physical examination was unremarkable. Blood glucose was 0.6 mmol/l upon admission and urine ketone was negative. Electrolytes and blood gas were normal. Glucose infusion rate of 11 mg/kg per min was required to maintain euglycemia. Critical samples revealed insulin ...