ESPE Abstracts

Background: Some obese children are metabolically healthy obese (MHO), while some are metabolically unhealthy obese (MUO) having dyslipidemia and/or insulin resistance which increase mortality and morbidity related to cardiovascular diseases during adulthood.Objective and hypotheses: This study is designed to assess factors affecting metabolic condition in obesity and compare clinical and laboratory findings between MHO and MUO children.<p class="abs...

Background: Heterozygous inactivating mutations in the calcium sensing receptor (CaSR) gene cause mild hypercalcemia, normal to slightly elevated parathormone (PTH) levels and may vary from an asymptomatic clinical picture to a mild course. This clinical picture is also called familial hypercalcemic hypocalciuria. In this study, it is aimed to present two sibling cases due to CaSR mutation with interesting features.Case...

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...

Introduction: Wolfram Syndrome (WFS: OMIM 222300), also known as DIDMOAD (diabetes mellitus, optic atrophy and deafness) is an autosomal recessive, progressive, neurologic, and endocrinologic, degenerative disorder caused by mutation in the WFS1 Gene. This report presents a case with a new defined mutation in WFS.Case presentation: Fourteen-year-old male patient was diagnosed with non-autoimmune type I diabetes at the age of 5 and insulin treatment was a...

Background: Dyslipidemia increases the frequency and severity of micro- and macro-vascular complications of type 1 diabetes.Objective and hypotheses: The present study aims to determine the prevalence of dyslipidemia and its association with clinical and laboratory findings in diabetic children and adolescents.Methods: The study included 202 children and adolescents with type 1 diabetes. Demographic data and laboratory findings wer...

Background: The familial type of isolated growth hormone deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type IA and IB, the autosomal-dominant type II, and X-linked recessive type III. Phenotype-genotype correlations are notoriously difficult to be established. Herein, we described the patient who has autosomal-dominant type II IGHD due to a novel GH1 mutation.Objec...

Background: Obesity prevalence among children increased worldwide in last three decades. Childhood onset obesity is associated with increased mortality and morbidity related to cardiovascular diseases during adulthood. Dyslipidemia has a fundamental role in the pathogenesis of cardiovascular diseases.Objective and hypotheses: This study is designed to evaluate the prevalence and related factors of dyslipidemia among obese children and adolescent.<p c...

Background: Van Wyk Grumbach (VWG) and Kocher Debre Semelaigne (KDS) syndromes are rare syndromes with clinical manifestation of hypothyroidism associated with precious pseudo puberty and myopathic pseudomuscular hypertrophy. We present two cases that have the characteristic of both VWGS and KDSS syndromes developed in association with a long-term untreated hypothyroidism.Case 1: Seventeen years old girl was referred to our hospital due to menstrual irre...

Background: Thyroid hormone resistance (THR) is an autosomal dominant, rare syndrome and result of the reduction sensitivity of target tissues to thyroid hormone. There is usually normal or slightly elevated TSH concentration with increase in serum fT3 and fT4 concentrations. The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone β (THR β) gene mutations. THR is defined by Refetoff et al. at 1967. THR mutati...

Type 1 diabetes mellitus (TIDM) is a very familiar chronic disease among pediatric endocrinologists. It is known that chronic diseases can affect their growth velocity and final height. The aim of the study is to determine how TIDM affects children's growth velocity during the childhood period.Material-Method: This cohort study used data from patients with TIDM participating in our clinic for the last 13 years. The patient had other...