ESPE Abstracts

Gonadotropin-releasing hormone (GnRH) stimulation test is the gold standard test for diagnosing central precocious puberty (CPP), which needs time and effort to perform. Recently, many studies confirmed that Insulin-like growth factor-1 (IGF-1) is involved in the initiation and progression of puberty. With this inspection, we assumed that the IGF-1 level might be correlated with the pubertal stage in central precocious puberty. This study aimed to investigate the value of IGF-...

Wilson disease (WD) is a relatively common genetic hepatic disease in pediatric area and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diagnosed late or untreated. In the early phase of WD, its initial presentation may include mild hepatic involvement that may not be noticable. In obese patients, WD coul...

Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia with abnormal growth pattern and inadequate pubertal growth spurt. Achondroplasia and HCH have many similar phenotype, however, HCH show the mildest phenotype among FGFR3-associated skeletal dysplasia, and the radiologic findings are usually so subtle. We investigated to evaluate clue for the hypochondroplasia, and clinical and genetic characteristics of eleven Korean patients with HCH. We a...

Prolactinoma is most common functioning pituitary adenoma(50%). However, there have been limited studies for prolactinoma in adolescents. Pituitary adenomas are uncommon in childhood and adolescence (<3% of childhood supratentorial tumors, 3–6% of all surgically treated adenomas). The aim of this study is to assess the characteristics of Korean adolescents with prolactinoma and their clinical course. This study is retrospective cohort study. Patients diagnosed with pr...

McCune-Albright syndrome (MAS) is a rare disease defined by the triad of precocious puberty (PP), café au lait spots, and fibrous dysplasia (FD). There are only a few patients with MAS in Korean because of the rarity of this disease. We reported the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. It is a retrospective cohort study of patients’ clinical data including about peripheral PP, FD. Also, treatment experie...

Background: The etiology of bone disease in thalassemic patients is multifactorial. Factors such as hormonal deficiency (especially gonadal failure), bone marrow expansion, increased iron stores, desferioxamine toxicity, calcium, and vitamin D deficiency seem to have a serious impact on impaired bone metabolism in this disease.Objectives: To estimate the frequency of calcium homeostasis abnormalities in adolescent thalassemic patients, and to investigate...

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...

Purpose: Since the COVID-19 outbreak, the number of obese children and adolescents has increased rapidly. Obesity acts as a gateway to chronic adult diseases, so proper management during childhood and adolescence is essential. We aimed to identify the interannual changes in the prevalence of obesity, diabetes mellitus, dyslipidemia, and hypertension, and to investigate factors contributing to these changes before and during the COVID-19 pandemic.<p class="...

Background: Skeletal dysplasias (SD) are a heterogeneous group of heritable conditions with generalized bone and cartilage impairment caused by pathogenic variants in genes primarily affecting skeletogenesis and/or bone homeostasis. In this study, we conducted a next-generation sequencing (NGS) in patients with a suspected SD to reveal the underlying etiologies of skeletal dysplasia.Methods: Thirty-four pediatric patient...

Background: Fibrochondrogenesis 1 (FBCG1) is known as an autosomal recessive syndrome, which is related to short-limbed skeletal dysplasia. The disease is clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Mutations in the gene encoding the α1 chain of type XI collagen (COL11A1) are s...