ESPE Abstracts

Introduction: Hypophosphatasia (HPP) is a rare autosomal recessive or dominant genetic disorder characterized by the abnormal development of bones and teeth and deficiency of tissue non-specific alkaline phosphatase activity. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. The specific symptoms can vary greatly from one person to another, sometimes even among membe...

Purpose: Small for gestational age(SGA)babies at increased risk of growth retardation. This is very important issues for them but lacks attention. So we hope this study deserves better guidance. The objectives of this paper is to illustrate the importance of this critical issues and to outline growth prognosis at the beginning of adolescence of female and male babies born small for gestational age(SGA) in comparision to controls born appropriate for gestationa...

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral lipomatosis and ipsilateral neurologic/ophthalmic malformation. Jaffe–Campanacci syndrome (JCS) is characterized by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw. Both of ECCL and JCS was associated neurofibromatatosis type 1. We had a case of GH deficiency with combined ECCL and ...

Background: Nutritional excess of vitamin A, a precursor for retinoic acid (RA), causes premature epiphyseal fusion, craniosynostosis, as well as light-dependent retinopathy. Similarly, homozygous loss-of-function mutations in one of the major RA-metabolizing enzymes CYP26B1 causes advanced bone age, premature epiphyseal fusion, and craniosynostosis. We studied a patient with markedly accelerated skeletal and dental development, retinal scarring, and autism-spectrum disease.</...

Objectives: We investigated the trajectories in hemoglobin A1C (A1C) levels among transition-aged patients (age from 15 to 22 years) with type 1 diabetes (T1D).Methods: Among the patients diagnosed with type 1 diabetes in pediatric age between 2001 and 2013 in Seoul National University Children’s Hospital, 119 patients (54 males and 65 females) with a diagnostic age for under 14 and measurement of A1C at least once...

Purpose: Childhood obesity epidemic leads an interest of pre-stage of hypertension; higher/elevated blood pressure (BP) status which BP numbers are lower than the criteria for diagnosing hypertension. In 2017, the clinical practice guidelines for pediatric BP management were published separately by Endocrine Society (ES) and American Academy of Pediatrics (AAP). The aims of this study are to evaluate the prevalence of elevated blood pressure (EBP) including hy...

Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in neonates and children. It is important to minimize recurrence of episodes of hypoglycaemia. In some cases, Hypoglycemia was not controlled even after near total pancreatectomy.Objective and hypotheses: To study the glycemic response of sirolimus in patients with hyperinsulinemic hypoglycaemia that was not responsive to octreotide and calcium channel blocker aft...

Background: The triglyceride glucose (TyG) index is significantly associated with the presence of nonalcoholic fatty liver disease (NAFLD) and is a reliable insulin resistance (IR) surrogate marker. Alanine aminotransferase (ALT) has been commonly used to reflect liver inflammation and liver damage in patients with chronic liver diseases, including NAFLD. Transient elastography (TE) uses pulsed echo ultrasound to measure the hardness of the liver, showing exce...

Turner syndrome is the most common chromosomal disorder in girls. They present classically short stature and delayed puberty. Turner girls with 45,X karyotype show normal female external genitalia. But Turner patients containing 45,X/46,XY mosaicism, or Sex-determining Region Y(SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation or pure gonadal dysgenesis. Existence of Y chromosome particles in Turner syndrome implies that they have risk of...

Acnathosis nigricans (AN) is known to be common dermatologic manifestation in obese children and adolescents. The aim of this study is to examine the association of AN and insulin resistance in obese children and adolescents. One hundred seventy-nine obese subjects aged 6-17 years who participated in the intervention study, Childhood and Adolescents Obesity via Activity and Nutrition (ICAAN) study, were enrolled in 2017-2017. AN was diagnosed by physician. Anthropomet...