ESPE Abstracts

Background: Hypoparathyroidism is a rare disease characterized by inadequate parathyroid hormone (PTH), resulting in hypocalcemia and hyperphosphatemia. Hypoparathyroidism can be transient, inherited, or acquired, and is caused by inability to synthesize or secrete PTH, abnormal parathyroid gland development, destruction of parathyroid tissue, or peripheral resistance to PTH.Methods: Medical records from 20 children and adolescents diagnosed with hypopar...

Background: Seeking strict normoglycemia in type 1 diabetes mellitus increases the risk of hypoglycemia, exposing to hypoglycemia unawareness. Hypoglycemia unawareness (HU) is defined as the occurrence of hypoglycemic symptoms directly without autonomic symptoms. This study is designed to determine the incidence of HU in children and adolescents with continuous subcutaneous glucose monitoring system and to assess the effect of structured education to improve awareness.<p c...

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake, and body weight which has intensively been analysed in molecular genetic obesity research. MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity. Most patients are heterozygotes, with some reports of homozygotes and compound heterozygotes.Objective and hypotheses: A 2-year-old boy with progressive weight gain from infa...

Introduction: Skeletal dysplasia is a heterogeneous group of disease, leading to abnormal enchondral ossification and typing of the disease is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been implicated to play a role in bone development. CNP levels were high in some types of the skeletal dysplasia.Objective: The aim of this study is to evaluate the possibility of using CNP, as a marker for s...

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight which has intensively been analyzed in molecular genetic obesity research. MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity.Objective and hypotheses: To identify MC4R mutations prevelance in Turkish obese children and adolescents.Method: Ninenty three pediatric and adolescent patients ...

Background: Wolfram syndrome is an autosomal recessive disorder accompanied by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Mutations in the WFS1 gene are determined in 90% of cases. We present the clinical features of three cases of Wolfram syndrome.Objective and hypotheses: Case 1: A 14-year-old girl presented with loss of vision. At the age of 3 years she had been diagnosed with type 1 diabetes mellitus with a bl...

Background: Proopiomelanocortin (POMC) deficiency is characterized by severe, early-onset hyperphagic obesity and congenital adrenal insufficiency, the latter secondary to ACTH deficiency.Case: 3.5 years old female patient whose initial diagnosis was neurometabolic disease because of motor mental retardation, ataxia, and bilateral hyperintense lesions in the basal ganglia in magnetic resonance imaging, increased lactate-lipid peak in proton magnetic reso...

Background: VDDR-II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused by mutations in the vitamin D receptor (VDR) gene.Objective and hypotheses: 2 years old Turkish girl first offspring of consanguineous parents admitted to the hospital for the evaluation of total alopecia and bilaterally genu varum deformity. She was born with normal pilosi...

Background: The most prominent clinical feature in patients with Turner syndrome (TS) is short stature.Objective and hypotheses: To assess the effect of GH and pubertal induction therapy on height gain in patients with TS.Method: 58 TS patients with a mean age of 18.9±7.2 years were documented retrospectively. Clinical findings, karyotype, impact of baseline age, dosage, baseline bone age, duration of the GH and pubertal induc...

Background: 46,XY DSD occurs as a result of testicular developmental disorders, defect in androgen synthesis or action. Nowadays, the diagnosis of DSD is quite costly and it takes a considerable amount of time due to lengthy hormonal and genetic analysis.Objective and hypotheses: The use of targeted next-generation sequencing of all known genes associated with 46 XY DSD for a fast molecular genetic diagnosis in patients in whom underlying defect of DSD w...