ESPE Abstracts

Background: Hypoparathyroidism may manifest either as an isolated disorder or as a component of a more complex syndrome. Molecular genetic studies indicate that mutations in PTH, CASR, GCM2 and GNA11 are causes of isolated hypoparathyroidism (IH) and mutations in GATA3, TBCE, FAM111A, AIRE and TBX1 are associated with different complex syndromes with hypoparathyroidism.Objec...

Background: Osteogenesis imperfecta (OI) includes a group of disorders with a susceptibility to bone fractures, the presentation ranging from slightly increased fracture frequency to death in the perinatal period.Objective and hypotheses: Autosomal-dominant inheritance with type I collagen biosynthesis defects is the most common, but many autosomal-recessive genes have been previously reported.Method: Whole-exome sequencing was per...

Background: Recombinant human GH (rhGH) therapy requires daily s.c. injections, this inconvenient treatment regimen results to poor compliance of the patient. Thus, to improve patient compliance, long-acting rhGH products including various protein fusion techniques have been in development during past 15 years.Objective and hypotheses: In this study, we describe the pharmacokinetics and efficacy of a novel long-acting GH using Fc fusion protein (rhGH-Fc)...

Background: Adolescent hyperandrogenemia is prophase of polycystic ovary syndrome. Obesity is one important cause of hyperandrogenemia. Whether hyperandrogenemia has happened in obese children is need to explore.Aims and objectives: To investigate the levels of insulin and androgens in obese children, analysis the correlation between insulin resistance and androgens, and comparison on the differences of androgens levels between obese boys and girls, and ...

Background: GnRH agonists are a common treatment modality for patients with central precocious puberty.Objective and hypotheses: Danazol-induced precocious puberty rats were used as an animal model to compare the effects of GnRH analogues and to assess combinations of treatment with agonistic and antagonistic GnRH analogues.Method: A 5-day-old female Sprague–Dawley rats were subcutaneously injected with a single dose of 300 &#...

Introduction: Turner syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of out 1/2500 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report a case of a variant TS with breast development.Case report: A 9-year-old girl was referred to our paediatric endocrinology outpatient...

Objective: Prader-Willi syndrome (PWS) is a complex genetic disease associated with hypothalamic-pituitary dysfunction, severe obesity and metabolic dysfunctions. The aim of this study was to describe endocrine and metabolic profiles in PWS children and young adults.We also investigated the differences in clinical outcomes according to genotype.Methods: Data of 64 children and adults with genetically verified PWS aged mo...

Purpose: This study aimed to profile children diagnosed with hypercalcemia of different etiologies at a single center.Method: We retrospectively reviewed 13 children diagnosed with hypercalcemia of different etiologies.Results: We describe 13 pediatric cases, aged 4 months to 12 years old (median age: 8 months), diagnosed from 2018 to 2021. Six males and seven females were included...

Objectives: Diabetes in children and young adults is increasing worldwide. However, the study of change in fasting glucose among general pediatric and young adult population was lacking. The aim of this study was to investigate the secular trend of fasting plasma glucose (FPG) levels in non-diabetic Korean youth and young adults and to evaluate the change in the proportion of impaired fasting glucose (IFG).Methods: Study subjects were Korean youth aged 1...

Objective: To investigate whether the early-life overweight/obesity trajectory from ages 2, 4, to 8 affects insulin resistance (IR) in 8-year-old prepubertal children.Methods: From the Environment and Development of Children (EDC) cohort, 262 prepubertal children (147 boys and 115 girls) who visited Seoul National University Children’s Hospital for anthropometric measurements at ages 2, 4 and 8 were included. At ag...