ESPE Abstracts

Introduction and aim: Prader-Willi syndrome(PWS), is a genetic disorder caused by the absence of paternal genes located on chromosome 15q11.2-q13. In this multi-central study; patients with PWS were followed for 2 years. Initial clinical and laboratory findings, growth hormone(GH) treatments and their responses were evaluated.Patients and Methods: 54 patients from 10 pediatric endocrine centers were involved and data was...

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: Although adequate hydration is recommended for healthy nutrition, the link between less water consumption and obesity is not exactly known. It was demonstrated that less hydrated adults had a higher body mass index (BMI). Data in children are rather limited. Our aim was to compare the hydration status between obese and non-obese children.Subjects and methods: Children aged between 7 and 18 years who had a BMI over 2 standard deviation score (...

Background: Idiopathic premature adrenarche (PA) in girls refers to the presence of androgenic signs before the age of 8 years in the absence of thelarche. Increased adrenal androgens lead to changes in body composition and transient growth acceleration without effecting final height. Although the association between PA and some components of the metabolic syndrome is well known, total body fat and body composition analysis are not widely studied.Subject...

Background: There are controversial results among the results of various studies evaluating diagnostic utility of kisspeptin, NKB, AMH, and INHB for demonstrating activation of hypothalamic-pituitary-gonadal axis in girls with CPP.Aim: To evaluate these 4 neuropeptides in the same individuals who presented with early pubertal signs and their validity in the diagnosis and differential diagnosis of CPP.<p class="abstex...

Background: Alström syndrome is a rare genetic disorder characterized by retinal degeneration, hearing loss, early-onset obesity, type 2 diabetes, cardiomyopathy, systemic fibrosis and progressive multi-organ failure. Our aim is to present two siblings who were diagnosed in early childhood.Case presentation: Three years five months old female and her two years one month old sister admitted to paediatric neurology department due to lack of eye contac...

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent and profound hypoglycemia in infants. There are two distinct histologic forms of CHI, diffuse and focal. The distinction between these forms is important in patients who fail medical therapy since surgical strategies may vary. Focal lesions occur due to paternally inherited recessive mutation in ABCC8 or KCJN11 genes with somatic loss of the maternal 11p15 region (paternal uniparental disomy). ...

Background: Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized by metaphyseal enchondroma-like bone lesions and dysplasia of the vertebrae. SPENCD with immune dysregulation (SPENCDI) describes the syndrome of combined immunodeficiency, autoimmunity and spondyloenchondrodysplasia caused by the mutations in the ACP5 gene on chromosome 19. Patients with SPENCDI and neurological manifestations including spasticity, developmental delay and cereb...

Introduction: The main purpose of the study was to determine whether anthropometric measurements at preschool (PS)-age, in which physiological adiposity rebound is detected, and LT4 dose have an effect on the age of onset of puberty in children with hypothyroidism.Methods: This is an observational and retrospective study.Results: Puberty had begun in 44 girls and 25 boys out of 115...

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...