ESPE Abstracts

Objective: To determine the prevalences of goitre and thyroid nodule, and to analyse the associations among age, gender, anthropometrics and thyroid volume in school children.Materials and method: Schools governed by Ministry of Education in Van province were included into the study. Sonographic evaluations of thyroid glands were performed in children aged 6–17 years, and weight, height, waist circumference, hip circumference, and skinfold thickness...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by a defect in any of the enzymatic steps of adrenal steroidogenesis. It occurs due to mutations in genes that encode enzymes involved in the synthesis of cortisol from cholesterol. The most common cause is 21-hydroxylase deficiency, with 11-beta hydroxylase, 3-beta hydroxysteroid dehydrogenase, 17-alpha hydroxylase and POR deficiency being among rarer causes.Objec...

Background: Health-related quality of life (HRQOL) is defined as a patient’s subjective perception related to the satisfaction with own health. There is no enough data on HRQOL of children and adolescents with type 1 diabetes (T1D) living in Turkey.Objective: To evaluate HRQOL in children and adolescents with T1D compared with healthy controls in Turkey, and to identify HRQOL determinants.Method: A total of 133 children and ad...

Introduction: Down Syndrome (DS) is a genetic disorder that has a high mortality rate and a large number of comorbidities such as hypothyroidism and heart disease. Thyroid hormones have significant effects on cardiovascular. This study aims to describe thyroid function and congenital heart defects in Down Syndrome children at dr. Hasan Sadikin General Hospital.Methods: This is a cross-sectional study. The inclusion crite...

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

Background: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. 21-hydroxylase enzyme deficiency (21-OHD) occurs in 90–95% of all cases of CAH. Despite it being a treatable condition, if unrecognized, CAH may present with life-threatening cardiovascular collapse. Mortality in the first years is reported to be higher than in the general population. Neonatal screening for CAH is effective in detecting the salt-wasting f...

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system (www.favorsci.org) to collect data of chil...

Background: Williams Syndrome (WS) is a multisystemic genetic syndrome, which includes characteristic appearance of “elfian face”, growth retardation, mild mental retardation, hypersociality, infantile hypercalcemia, and other endocrine, cardiovascular, and urinary abnormalities. WS is caused by the microdeletion of chromosome 7q11.23; it is usually sporadic but rare autosomal dominant familial cases have been reported in the literature. We present a boy and his moth...

Background: Hashimoto thyroiditis (HT) is the most common autoimmune disorder. There are few studies that analysed the relationship between HT and serum vitamin D.Objective and hypotheses: It has been suggested that vitamin D acts as an immunomodulator in autoimmune diseases such as HT Therefore we planned to investigate vitamin D status in euthyroid girls with HT.Method: The study group consisted of 66 euthyroid pubertal girls rec...

Objectives: We explored the alternative of using overnight fold change in gonadotropin levels by comparing the last-night-voided and first-morning-voided urine concentrations of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) as a conceptual analogy to the invasive gonadotropin-releasing hormone (GnRH) stimulation test setting.Methods: We investigated the nocturnal changes in the immunoreactivity levels o...