ESPE Abstracts

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: Prediabetes often precedes type 2 diabetes, which is associated with obesity and increased risk of developing cardiovascular disease. Haemoglobin A1c (HbA1c) has been recently recommended as a useful tool for the diagnosis of diabetes and prediabetes.Objective and hypotheses: We investigated whether prediabetes according to HbA1c was associated with cardiometabolic risk factors in Korean children and adolescents.Method:...

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...

The syndrome of resistance to thyroid hormone (RTH) is caused by decreased tissue responsiveness to thyroid hormone. With the exception, inheritance of RTH is autosomal dominant. The receptors are encoded by two genes (THRA and THRB), each of which undergoes alternate splicing to generate receptor subtypes (TRa1, TRβ1, and TRβ2), with differing tissue distributions.Here we describe a child with novel heterozygous mutations for THRB. Nine-months-old ...

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...

Introduction: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare condition characterized by symptomatic ACTH deficiency and primary hypogammaglobulinemia, caused by a heterozygous mutation in the NFKB2 gene (MIM#164012) on chromosome 10q24. We report the novel mutation of the NFKB2 gene in a Korean boy presenting with gait disturbance, calf pain, and abnormal thyroid function test.<s...