ESPE Abstracts

Background: Studying patients with rare Mendelian diabetes has highlighted molecular mechanisms regulating β-cell pathophysiology. Previous, experimental studies have shown that Class IIa histone deacetylases (HDAC4, 5, 7, and 9) modulate mammalian pancreatic endocrine cell differentiation, function and finally glucose homeostasis.Methods: We performed exome sequencing in one adolescent boy with non-autoimmune di...

Background: The use of GnRHa in central precocious puberty is known to slow puberty progression, subsequently prevent early menarche, and attenuate the height loss by advanced skeletal maturation. But enhancing the final height was so controversial that an additional approach has been used.Objective and hypotheses: To investigate the age of menarche, and the height outcomes in central precocious girls treated with GnRHa (n=61) or combined GH (<e...

Keywords: Prader-Willi syndrome; Gut microbiota; Insulin sensitivity; Metagenomics sequencing; Obesity.Aim: Obesity is the main driving factor for comorbidities in Prader-Willi syndrome (PWS) patients due to overeating behaviors. The gut microbiota has been implicated in the aetiology of obesity and associated comorbidities. The purpose of the present study is to characterize the fecal microbiota in Chinese patients with...

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Background: Prolactin (PRL) stimulates mammary glands and milk production in adult women. Also, high PRL level causes gonadal dysfunction by suppression of gonadotropin releasing hormone (GnRH) and luteinizing hormone (LH).Purpose: The aim of this study was to evaluate, if any, the relationship between PRL level and development of puberty in girls with precocious breast development.Methods: One hundred and ten girls with onset of b...

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: Neonatal thyroid stimulating hormone (TSH) is influenced by several factors. But the effects are not consistent but different depending on subjects and kind of blood sample.Objective and hypotheses: This study was to evaluate the effect of neonatal, maternal, and delivery factors on neonatal TSH of healthy newborns.Method: Medical records of 713 healthy infants born through normal vaginal delivery were reviewed. TSH lev...

Background: Turner syndrome (TS) is caused by complete or partial of the second sex chromosome and characterized bygrowth failure, primary ovarian failure, the constellation of the lymphedema sequence, characteristic facial features, left-sided cardiac anomalies, renal anomaly, and skeletal anomalies. Among all of the associated traits, cardiovascular abnormalities are common in TS and an important cause of early mortality. Hence, our aim is to investigate the...

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...

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...