ESPE Abstracts

Background: Prader–Willi syndrome (PWS) is characterised by neonatal hypotonia, hypogonadism, progressive obesity, short stature, and mental retardation. This syndrome arises from a loss of expression of paternally derived genes on chromosome 15q11–13 region.Objective and hypotheses: The aim of this study was to investigate clinical characteristics and their genotypes in Korean patients with PWS.Method: The study included...

Objectives: Dyslipidemia begins and continues in youth and is a major risk factor for adult-onset cardiovascular disease. The aim of this study was to investigate the prevalence and trend of dyslipidemia in Korean youth and its trends for 10 years.Methods: Study subjects were Korean youth aged 10-18 years who participated in the Korea National Health and Nutrition Examination Survey (KNHANES). A total of 7,466 eligible p...

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: 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 ...