ESPE Abstracts

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

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: Mucopolysaccharidoses (MPS) are lysosomal storage diseases. The frequency of endocrinological problems such as osteoporosis and hypothyroidism among children with MPS is not known and there are limited studies. In this study, the clinical findings, bone health and other endocrine functions of patients with MPS diagnosis and access to current treatments were retrospectively evaluated.Materials and Methods:Th...

Background: Intrathyroidal ectopic thymic tissue is one of the rarest congenital abnormalities. Ectopic thymus tissue can be detected in various locations from the mouth or the base of the skull to the superior mediasteneum. We report here three cases of intrathyroidal ectopic thymus tissue who presented as thyroid nodules in different ages.Cases: Case 1: a 10-year-old girl had a guatr and her thyroid function tests were normal. Thyroid US showed a hypoe...

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...

Background: Papillary thyroid cancer (PTC) constitutes more than 90% of the thyroid cancer in children. PTC behaves differently in prepubertal children than in pubertal children and between children and adults. BRAF gene activating mutations lead to PTC by creating aberrant activation. The most common mutation is BRAFV600E.Objective and hypotheses: To evaluate clinicopathological characteristics of PTC patients with emphasis on the pubertal st...

Background: The growth process that transforms a newborn into an adult implies that there is not only an increase in height but above all a constant change in body proportions. Knowledge of the body proportions gives insight into the natural process of maturation and any disturbance can be used as a diagnostic tool.Objective and hypotheses: Manual measurement of body dimensions is a highly time-consuming procedure requiring a variety of measurement tools...

Background: 45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes, ranging from ambiguous genitalia at birth to patients with a completely male or female phenotype. Turner syndrome stigmata and associated anomalies could be found in these patients.Objective and hypotheses: To evaluate clinical presenting symptom and follow-up data of 30 patients with 45,X/46,XY karyotype.Method: Thirty patients with 45,X/46,XY mosa...

Background/Aim: Prediction of metabolic syndrome (Mets) plays important role in cardiovascular disease risk prevention. Although Mets is relatively common in children with T1DM, diagnosis and prediction are ignored. Visceral Adiposity Index VAI) has been defined as a new cardiometabolic risk marker reflecting abdominal fat distribution and dyslipidemia. The aim of the study is to reveal the relationship between Mets and components of VAI in patients with T1DM....

Background and aims: The interpretation of serum 17α-hydroxyprogesterone (17OHP) results is difficult as age-related pediatric reference intervals are scant. The aim of this study is to determine the reference intervals for serum 17OHP according to sex and age groups in newborns. We also aimed to establish reference intervals for right and left adrenal gland sizes, and to evaluate the relation with adrenal size and serum 17OHP concentrations in newborns.<p class="abst...