ESPE Abstracts

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...

Background: Congenital adrenal hyperplasia (CAH) is a disease inherited by autosomal recessive manner and one of the most common congenital metabolic disorders. The incidence of CAH has been reported mainly through neonatal screening tests, mostly for 21-OHD. It is reported that 21-OHD occurs one in 15,000 people per year. However, there are few studies on all types of CAH incidence including 21-OHD. CAH is a rare disease, studies on large populations are needed to identify a ...

SLC34A1 encodes renal sodium-phosphate cotransporter 2A. It has been identified as being a part of the etiology of idiopathic infantile hypercalcemia. We report a case of a 1-month old girl, initially hospitalized due to perinatal detection of nephrocalcinosis. Blood tests showed hypercalcemia, hypophosphatemia, hypercalciuria and increased 1,25-(OH)2D3. Renal ultrasound revealed medullary nephrocalcinosis. An abnormality in vitamin-D metabolism was suspected and genetic testi...

Background: Hypomagnesemia is a frequent condition in patients with diabetes mellitus (DM). It could influence metabolic control in patients with DM. Relevant studies concern mainly adults and there are few data from the pediatric population. The aim of the present study was to evaluate magnesium levels and examine their possible association with glycemic control in pediatric patients with diabetes mellitus.Methods: In all, 36 patients with DM (type 1, 3...

Background: It is well known that obesity, diabetes or chronic disease are related with nutrition. However it has not been known whether health providers have concepts or competence about counseling of nutritional support in clinical practice basis. There is rare of information about differences among types of profession jobs.Objective and hypotheses: We investigated a survey with standardized questionnaire tool among different types of profession jobs d...

Background: The recent articles showed a kind of associations of the serum vitamin D levels and chronic diseases, for example, autoimmune diseases, vascular disorders, as well as malignancies. Also vitamin D deficiency impacts normal growth and maximal bone mineral accretion in puberty. Of pediatric population in Korea, the prevalence of cases of vitamin D deficiency and precocious puberty were continuously increasing nowadays.Objective and hypotheses: W...

Background: Islet autoantibodies such as Glutamic Acid Decarboxylase (GAD), Islet antigen-2 (IA-2), Zinc Transporter 8 (ZnT8), and Insulin autoantibody (IAA) are known to be detected at higher frequencies in pediatric patients clinically diagnosed with type 2 diabetes than in adults. Therefore, it is crucial to evaluate them for accurate diagnosis, prognosis, and treatment direction. However, guidelines for when to re-evaluate patients with negative islet auto...

Background: Achondroplasia is the most common condition characterized by disproportionate short stature. Patients with achondroplasia progressively fall below normal standards for length and height. GH has been widely used to treat short stature with or without GH deficiency (GHD).Objective and hypotheses: The purpose of the present study was to clarify the effectiveness of GH therapy on short stature in achondroplasia.Method: The ...

Inborn Errors of Immunity (IEI) include more than 400 disorders representing aberrant function or development of the immune system. Recently, more attention has been paid to the interaction between the immune and endocrine systems. In this study, we aimed to investigate endocrine disorders in a cohort of IEI. We investigated the prevalence, clinical, and laboratory features of endocrine disorders in patients who were diagnosed with IEI from 1994 to 2022 in Samsung Medical Cent...