ESPE Abstracts

Introduction: The intellectual outcome in children with congenital hypothyroidism detected by neonatal screening is generally good. The aim of this study was to evaluate the intellectual outcome in patients with congenital hypothyroidism at childhood and to identify factors that may affect intellectual development.Methods: The intelligence quotient (IQ) of 126 patients with congenital hypothyroidism was evaluated at childhood using the Korean Wechsler In...

Background: Thiamine-responsive megaloblastic anemia syndrome(TRMA) is a rare disease characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. The disease can be accompanied by attack of stroke, which are rarely reported. To analyze the clinical characteristics of a case of thiamine-responsive megaloblastic anemia with attack of stroke in our hospital and review the related literature of this syndrome in order to improve the dia...

Objective: The aim of this study was to detect potential gene mutation of Methylmalonic acidemia (MAA) in a Chinese patient.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A NGS panel include MUT,MMAA,MMAB,MMADHC and MCEE genes was identify the pathogenic mutation responsible for the MAA and verified by Sanger.Results: A...

Background: Hypoglycemia triggers the secretion of counter-regulatory hormones such as cortisol, GH, and glucagon, all of which are protective mechanisms to restore euglycemia. It has been suggested that CHI patients have abnormal glucagon secretion during hypoglycemia, but the data is limited.Objective and hypotheses: To investigate the secretion of counter-regulatory hormones including glucagon during hypoglycemia. It’s supposed that these hormone...

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...

Objective: Evaluation the clinical efficacy of autologous hematopoietie stem cell transplantation and traditional insulin therapy.Methods: This is a case–control study. The subject investigated were diagnosed primary childhood type 1 diabetes in Beijing Children’s Hospital Endocrinology Centre, and there are 14 cases did the immune intervention combined with autologous hematopoietie stem cell transplantation in other hospital during the first 3...

Background: The growth hormone (GH) stimulation test, which requires multiple blood sampling, should be performed to confirm the diagnosis of growth hormone deficiency because of the pulsatile secretion of GH. In addition to hypoglycemia, L-dopa and arginine, deep sleep is also known as an important stimulator of GH secretion.Objectives: The aim of study was to assess the accuracy and predictive value of the test of post...

Background: Fibrous cortical defects (FCDs) and non-ossifying fibromas (NOFs) are the most common benign lesions of the skeletal system, with an estimated incidence of up to 30% in children and adolescents.Objective and hypotheses: Although their aetiologies are unknown, FCDs and NOFs develop mostly in regions of intense bone growth. We hypothesized that patients with precocious puberty (PP) would have a higher prevalence of FCDs and NOFs than age-matche...

Case presentation: A 23 months-old girl visited the hospital because of fever and left neck mass. She was diagnosed as acute suppurative thyroiditis with piriform sinus fistula. Thyroid sonography showed perithyroidal abscess formation and thyroid scan showed decreased uptake of Tc-99 m pertechnate of both thyroid glands. Magnetic resonance imaging of neck suggested infected 3rd and 4th branchial cyst. And there was tiny fistula between thyroid and piriform sinus on barium eso...