ESPE Abstracts

Introduction: High doses of biotin are reported to cause incorrect results in various immunoassays in some patients. However, there is no systematic study regarding biotin interference in childhood.Aim: To assess thyroid function with different methods in subjects with biotinidase deficiency, to determine the factors causing interference, and to investigate the efficiency of the methods for overcoming interference.Method: The study...

Background: There exists limited data regarding genetic etiology of hypophosphatemic rickets in Turkey.Objective and hypotheses: To investigate the type of genetic defect in 16 index children and their families (12 unrelated, 1 related).Method: Following clinical and laboratory assessment, PHEX analysis was made initially unless a mutation in another gene was suspected. If negative, FGF23, SLC34A3, SL...

Background: MODY is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. To date, there are mutations in more than ten different genes that result in the MODY phenotype and new mutations causing MODY are still being found.Objective and hypotheses: In this study, we aimed to perform a molecular analysis of pediatric MODY patients by next-generation sequencing which enables the simultaneous analysis of multiple genes in ...

Background: Pancreas aplasia (PA) and neonatal diabetes mellitus (NDM) syndrome is a rare disease that usually presents in the 1st months of life.Objective and hypotheses: We aimed to characterize molecular genetic defects in a cohort of six NDM/PA patients with up-to-date unknown pathogenesis with optimum genetic testing.Method: As part of our ESPE-RU-project ‘Understanding the molecular basis of diabetes mellitus associated ...

Background: C1q/tumor necrosis factor-related proteins (CTRPs) are the recently recognized members of the adipokine family, secreted from adipose tissue. Some types of CTRPs, including CTRP-13, play an important role in energy metabolism in humans. Also, CTRP-13 was found as an anorexigenic factor in experimental studies.Objective: We aimed to investigate serum CTRP-13 levels in obese and healthy children, as well as the...

Background: Thyroid cancer is a very rare malignancy of childhood. Approximately they account for 1.5% of all cancers before 15 years of age. In our country, this rate is %0.4 before 20 years of age.Aims and objectives: To analyses the clinical features and treatment results of children with thyroid malignancy in Turkey.Methods: In this multicentric and retrospective study the demographic and clinical characteristics of 124 childre...

Background: Diagnosis and treatment of GH deficiency(GHD) in children are different between countries, and even among centres in the same country.Objective and hypotheses: To evaluate current practices in diagnosis and treatment of GHD in the process of preparing the new consensus on GHD by Turkish Society for Pediatric Endocrinology and Diabetes.Method: A questionnaire was sent out to all paediatric endocrinology centres.<p cl...

Aim: Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and it treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients presented to the pediatric endocrinology clinics before the age of 18 years.Results: From 24 centers, 158 patients (93 male/65 female) were i...

Bardet-Biedl syndrome (BBS) is a rare and multisystemic disorder characterized by rod-cone dystrophy, post-axial polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. The disorder is genetically heterogeneous. To date, 21 genes present on different chromosomes have been mapped. The most common genes are BBS1 (locus 11q13) and BBS10 (locus 12q21.2). We aimed to report two family with five affected children with typical clinical features of Bardet-Bi...

Introduction: Central Diabetes Insipitus (CDI) results from the inability to secrete ADH secreted by the neurohypophysis system to control water-electrolyte metabolism. In the etiology of CDI many congenital and acquired CNS tumors, infiltrative diseases,infections, autoimmune events, head trauma and idiopathic can be responsible. In this article, a child case with CDI due to intracranial occurence which is very rare in etiology is presented and the approach and follow up are ...