ESPE Abstracts

Objectives: This study aimed to evaluate the safety and effectiveness of rhGH treatment, using specific products (Eutropin®, Eutropin®Pen, Eutropin®AQ, Eutropin®Plus and Eutropin®SPen; LG Chem, Ltd.), in pediatric patients with growth disorders in Korea.Methods: Among the patients who enrolled in LGS (2012–2022, n=5,120), patients received at least one injection of rhGH were included fo...

Background: We evaluated 12 months follow-up of thyroid function in patients who underwent hematopoietic stem cell transplantation (HSCT) during childhood and adolescents.Methods: We studied 83 hematologic-malignancy patients (46 boys and 37 girls, acute lymphoblastic leukemia=25, acute myeloid leukemia=51, chronic myelogenous leukemia=7) who underwent HSCT between January 2006 and December 2011.The mean age at HSCT was 9.78±4...

Heterozygous mutations in the ACAN, encoding for aggrecan or cartilage-specific proteoglycan protein, are associated with short stature with advanced skeletal maturation and skeletal dysplasia. A 2 years 7 month-old girl born small for gestational age presented with proportionate short stature (height 79.9 cm, SDS, −3.23) and bone age was delayed about 1year less than her chronologic age. She was born as small for gestational age.(38 weeks and 5 days of gestatio...

Inherited thyroxine binding globulin (TBG) disorder can be identified incidentally or through neonatal screening test. TBG excess is characterized by high levels of thyroxine (T4) but normal level of free T4 (fT4), while TBG deficiency presents with low T4 levels and normal fT4 levels. TBG excess is caused by TBG gene duplication or triplication. A 27 day old newborn was brought to the hospital because of hyperthyroxinemia that was identified through neonatal screenin...

Background: It is important to find and manage the cause of short stature in children. GH stimulation test is considered as a ‘gold standard’ for the diagnosis of GH deficiency (GHD), and several pharmacologic agents including insulin, glucagon, L-dopa, or clonidine are used for GH stimulation test (GHST). However, diagnostic value, sensitivity or specificity of each GHST is not clear.Objective and hypotheses: This study was desi...

Background: In paediatric patients with metabolic bone diseases, measurement of the concentrations of minerals including inorganic phosphate is often indicated, and hypophosphataemia is a clinically manageable biochemical disorder. The clinical interpretation of plasma or serum phosphate concentrations depends, to a certain extent, on the age- and gender-specific reference intervals applicable to the laboratory methods employed.Whereas h...

Background: With the use of insulin resistance (IR) as a cause of metabolic syndrome (MetS), it is possible to screen the risk group of childhood MetS. Indirect index of IR can be estimated thru homeostasis model assessment (HOMA) of IR. Another index of triglyceride and glucose (TyG) were evaluated and equally effective in some adult studies. However, we do not have consistent prevalence rate and percentile distribution of MOMA-IR and TyG index in children and adolescent popu...

Background: For many years, raising awareness on early referral to endocrinologist, early diagnosis, and treatment continuation for paediatric patients with growth hormone deficiency (GHD) has been continued in Japan. However, the current status of trends in age at diagnosis and of treatment continuation have not been fully clarified.Aim: The aim of this study is to estimate the persistence to growth hormone treatment (G...

We report a patient with medulloblastoma showing severe hypercalcemia and a raised PTHrP serum level. He was a 19-year-old with a history of recurrent medulloblastoma. He developed constipation, lethargy and altered mentality for 3 weeks. There was no family history of hypercalcemia. Laboratory test revealed hypercalcemia of 18.2 mg/dL. PTHrP increased to 10.7 pmol/L (normal range: <1.1 pmol/L), whereas serum level of intact parathyroid hormone was suppressed to 5 pg/mL (n...

Backgroud: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inherited disorder of gluconeogenesis, which caused by the mutations in the FBP1 gene. FBPase deficiency is characterized by recurrent episodes of hypoglycemia with metabolic and lactic acidosis. If diagnosed early, the prognosis of this disorder is excellent by the prevention of hypoglycemia and avoidance of intake of fructose and sucrose. However, the misdiagnosis of FBPase defi...