ESPE Abstracts

PLR-DTC patients defined as having a tumor grossly confined to the thyroid with minimal or no central lymph nodes comprises 40% of all pediatric DTC followed-up in our center. High-invasive molecular alterations (HIMA) have been reported recently in around 57% of these patients with a still not clear explanation on their influence in outcome.Objective: To report the characterization of a small group of PLR-DTC patients who were positive ...

Background and Aim: Gonadotropin-releasing hormone analogs (GnRHa’s) are the standard medical treatment for precocious puberty. Studies on their side effects in adults have shown that these drugs can cause changes in electrocardiography (ECG) along with some cardiovascular effects; however, the number of studies on children is limited. This study aims to investigate the effect of these drugs on ECG parameters in children diagnosed with central precocious puber...

Introduction: The aldosterone synthesis is dependent on aldosterone synthase (AS), an enzyme encoded by the CYP11B2gene, one of the cytochrome P450 enzymes (P450c11Aldo). It catalysis the final steps of adosterone biosynthesis.Case: A 10 days old boy is presented with poor feeding, jaundice and weight lost. He was born from a 35 years old mother, as 4 th children, from consanguineous parents. One sister and one brother o...

Background: Screen (TV, tablet, smartphones, internet, video games, PC etc.) addiction is a growing problem in child health. The effect on insulin-glucose metabolism is not well known yet.Objective and hypotheses: To investigate the insulin resistance in screen addicted children.Method: We studied 108 children and adolescents aged 13.72±1.95 years (range 11–17 years). Participants were divided into three groups according ...

Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia (PHEX mutation) is the most frequent cause of HH, recent advances in the next-generation sequencing (NGS) techniques enable the identification of various genetic etiologies. Our study aims to determine the molecular etiology of patients with hypophosphatemia and to identify new candidate genes....

Introduction: CPHD is characterized by impaired production of GH and one or more other pituitary hormones. Genetic defects causing CPHD typically result in insufficient anterior pituitary gland development.Aim: The aim of the study is to determine the genetic etiologies that lead tocombined hormone deficiencies. Todetermine phenotype genotype relationship with or without extra-pituitary anomalies.<...

Introduction: Microarray (SNP array) method offers a powerful full genome scanning opportunity in the diagnosis of disorders of sex development (DSD).Aim and Method: We aimed to determine the copy number variations (CNVs) by using the microarray method to elucidate the molecular etiology in DSD patients. The variants found were scored according to the American College of Medical Genetics and Genomics criteria.<p clas...

Background: Vitamin D Dependent Rickets Type IA (VDDR-IA) is the most common type of VDDR and caused by mutations in CYP27B1. Here, we aimed to analyze the genotypic and phenotypic features of our VDDR-IA patients.Materials and Methods: The patients with a clinical diagnosis of VDDR-IA were enrolled and analyzed for CYP27B1 gene mutations.Results: 12 (5 males) pat...

Introduction: Lipodystrophies are heterogeneous group of disorders; characterized by congenital or acquired loss of fat tissue. These disorders can causes severe metabolic complications during childhood. Case: 10.5 years old girl admitted to our clinic due to pigmented lesions on her body. She was investigated due to sclerotic lesions on her legs when she was 8 years old and was diagnosed as scleroderma and methotrexate was initiated. On physical examination weight was 47 kg (...

Introduction: The etiology of hyperandrogenism is diverse and diagnosis is based on history, clinical findings, reliable measurement of steroid hormones and genetic analyzes. In the electrochemiluminescence immunoassay (ECLIA) method, the presence of various endogenous compounds and the use of certain pharmaceutical agents may cause interference in results, on the other hand liquid chromatography-mass spectrometry (LC-MS/MS) method allows measurement of 17 adr...