ESPE Abstracts

Background: Although the highest prevelance rates of childhood obesity and overweihgt have been observed in developed countries, its prevelance is reported to be increasing in developing countries as well. Prevelance of obesity and overweight in different regions of Turkey ranges between 1.6–7.8 and 9.9–17.6 respectively.Objective and hypotheses: The purpose of this study was to investigate the prevelance of obesity and overweight among student...

Background: Experience with oral desamino-D-arginine-8-vasopressin lyophilisate (OLD) for central diabetes insipidus (CDI) in children with CNS malformations is limited.Objective and hypotheses: We aimed to assess the efficacy of oral use of OLD in children with CDI.Methods: Clinical, laboratory, and imaging characteristics of twenty-five children with CDI treated with OLD were eva...

Spondylo-epimetaphyseal dysplasia -ACAN (SEMD- ACAN) is a rare form of osteo-chondrodysplasia that represents a group of vertebral, epiphyseal, and metaphyseal dysplasia. This genetic condition is caused by biallelic loss-of-function mutations in the ACAN gene, which encodes for aggrecan, an essential component of the extracellular matrix in cartilage. Biallelic loss-of-function mutations in this gene result in a range of characteristic symptoms, including disproportionate sho...

Dysosteosclerosis (DOS) is a rare form of dense bone disease and, short stature, recurrent fractures, optic atrophy, cranial nerve palsy, developmental delay, flattened fingernails, skin related complications, and failure of tooth eruption are the characteristic features of the disease (MIM %224300). Irregular osteosclerosis, flattened diffusely dense vertebral bodies, sclerotic skull, radiolucent sub-metaphyseal portions of the long tubular bones with sclerotic diaphysis are ...

Introduction: Although the majority of the cases with obesity have a multifactorial etiology, rare monogenic forms of obesity exist. Several genetic disorders have been described that lead to early onset monogenic obesity. Leptin (LEP), leptin receptor (LEPR), melanocortin 4 receptor (MC4R), proprotein converting protein subtilisin / kexin-type 1 (PCSK1) and proopiomelanocortin (POMC) are the genetic mutations that have been most frequently shown to cause mono...

Introduction: Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare hereditary disorder with autoimmun manifestations affecting both endocrine and non-endocrine tissues. It is caused by mutations in the autoimmune regulatory (AIRE) gene which is defined by the presence of two of the three major components: Chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and Addison’s disease. Clinical manifestations may be developed during...

Introduction: Kisspeptin is a neuropeptide, encoded by the KISS1 gene, which acts upstream of gonadotropin-releasing hormone (GnRH) neurons and also has a critical role for maturation and function of the reproductive axis. Inactivating mutations of its receptor (KISS1R) cause normosmic isolated hypogonadotropic hypogonadism (IHH). In this report, we aim to present three siblings who have IHH due to novel compound heterozygous KISS1R mutation.Cas...

Introduction: Antithyroid Drugs (ATD) are generally preferred at the onset of treatment with no consensus on the duration of ATD (propylthiouracil, methymasole) treatment Graves disease in children.Objective: Examining the effectiveness of ATD treatment on children and adolescents and determining the risk factors of remission and relapse.Method: A total of 45 cases with ages varying between 1–18 years diagnosed with Graves dis...

Background: To the best of our knowledge, no study has been conducted to assess the impact of 21 hydroxylase deficiency and hidrocortisone treatment on electrocardiographic measures in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.Objective and hypotheses: The purpose of this study is to compare the12-lead electrocardiographic measures such as PWd, QT interval, QTd, Tp-e interval, Tp-e/QT and Tp-e/QTc ratio in patients of 21-hydro...

Background: While some guidelines recommend 0.5–1.0 units/kg per day of subcutaneous insulin following resolution of diabetic ketoacidosis (DKA), up to 2 units/kg/day are used in various centers.Objective and hypotheses: To test the hypothesis that higher initial insulin doses would be more efficient during first 48 h of subcutaneous insulin therapy after DKA in cases with new-onset type 1 diabetes.Method: Records of patients ...