ESPE Abstracts

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: 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 &#...

Background: The weekly sustained-release growth hormone (GH) has been approved for treatment in growth hormone deficiency (GHD). It provides a practical strategy for improving adherence.Objective and hypotheses: To evaluate the long-term safety and effectiveness of two formulations of daily (Eutropin®) and weekly (EutropinPlus®) GH in Korean pediatric GHD patients.Method: A multicenter, long-term, pr...

Background: Over 4 years, 1,526 patients received Eutropin® and EutropinPlus® (recombinant human growth hormone (GH), LG Life Sciences, Ltd.) while enrolled in the LG Growth Study (LGS), designed to monitor the long-term effectiveness and safety of GH. We present LGS experience for GH treatment during 4 years in growth hormone deficiency (GHD)Objective and hypotheses: To evaluate the long-term safety and efficacy of Eutrop...

Backgrounds: Perfluoroalkyl compounds (PFCs) have been suggested as potential thyroid disrupting chemicals. However, previous studies about the associations between PFCs and childhood thyroid function are scarce, and inconclusive. We evaluated the PFC exposure in Korean preschool children, and investigated the temporal relationship with thyroid hormone concentration.Methods: From a prospective the Environment and Develop...

Background: KiSS-1 and its product, kisspeptin is necessary for puberty onset and proper adult gonadal function due to its stimulatory effect on the secretion of gonadotropin-releasing hormone (GnRH). Although the pathophysiological importance of KiSS-1 and kisspeptin is well known, the developmental patterns of expression of KiSS-1 genes and serum level of kisspeptin have not been explored to date.Objective and hypotheses: We report herein the expressio...

Background: Glycogen storage disease (GSD) is an inherited metabolic defect of metabolic defect of glycogenolysis and gluconeogenesis. Patients with GSDs are associated with endocrine abnormalities such as short stature, delayed puberty, fasting hypoglycemia, and dyslipidemia. In addition, patients with GSD 1b are also at risk of autoimmune hypothyroidism. Therefore, this study was performed to investigate endocrine complications in patients with GSD.<p cl...

Purpose: Patients with mixed gonadal dysgenesis (MGD) and ovotesticular disorders of sex development (DSD) usually present with asymmetric gonads. Differential diagnosis of these conditions is based on karyotype and pathological findings of gonads. However, it is difficult to determine sex of rearing and to predict long-term outcomes. This study investigated the clinical features, karyotype, sex of rearing, and pubertal outcomes of patients with MGD and ovotesticular DSD.<...

Thyroid nodules in children are less common than adults. However, pediatric thyroid nodules have higher rate of malignancy compared with adults, and also have increased risk of metastasis and recurrence. In this study, we analyzed clinical features, laboratory findings, and thyroid ultrasound (US) of children with thyroid nodules to determine predictive factors of thyroid cancer. Total 268 patients under 18 years of age with thyroid nodule whom visited Severance Children’...

Background: Rathke’s cleft cyst (RCC) is a benign, sellar or suprasellar lesion arising from the remnants of Rathke’s pouch that have failed to disappear in the normal development of the embryo. Patients with RCCs are mostly asymptomatic but can also exhibit various symptoms related to pituitary insufficiency. With increasing interest on endocrinology disorders of children or adolescents, the prevalence of RCCs is also on the rise. However, the studies on children or...