ESPE Abstracts

Background: Subclinical hypothyroidism (SH) is defined as an elevated serum concentration of TSH when serum free thyroxine (fT4) concentration is within its reference range. Impaired myocardial contractility in overt hypothyroidism and left ventricular (LV) diastolic dysfunction in adults with SH as well as beneficial effects of thyroid hormone replacement on systolic and diastolic functions in adults with SH has been documented, however the presence of similar alte...

Objective: In the present study, it was aimed to investigate the concomitance of additional cardiac problems, mainly mitral valve prolapse, in adolescents and pediatric patients with Hashimoto’s thyroiditis, by screening autoimmune markers.Methods: Euthyroid 57 patients, who applied to the Pediatric Endocrinology clinic at our institution with marked symptoms of hypothyroidism at the time of diagnosis, and were diagnosed and treated for Hashimoto&#1...

Background: 5α-Reductase is an enzyme that converts testosterone to dihydrotestosterone (DHT) in peripheral tissues. DHT is responsible for the differentiation of male external genitalia. Mutations in the 5α-steroid reductase type 2 gene (SRD5A2) result in incomplete masculinisation of the external genitalia in subjects with a 46,XY karyotype. The clinical spectrum of a 46,XY individual with 5α-reductase deficiency at birth can range from complete femal...

Background: Thrombocyte volume parameters such as mean thrombocyte volume (MPV) and PDW (thrombocyte distribution volume) are parameters used in evaluation of thrombocyte size which have hemostatic importance. The increased thrombocyte volume is a marker of thrombocyte activation. The thrombocyte activity is important in pathophysiology of diseases with a tendency of thrombosis and inflammation. In adult studies it has been reported that MPV increases in thrombotic diseases su...

Background: Local oestrogen production in the brain regulates critical functions including neuronal development, gonadotropin secretion and sexual behaviour. In the mouse brain, a 36 kb distal promoter (l.f) regulates the Cyp19a1 gene that encodes aromatase, the key enzyme for oestrogen biosynthesis. In vitro, promoter l.f interacts with oestrogen receptor alpha (Esr1) and Progesterone receptor (Pgr) to mediate Cyp19a1 mRNA expressi...

Background: An optimal vitamin D status is important for the growth and development of bones in children and adolescents. The prevalence of vitamin D deficiency is still high, even in low-latitude and industrialized countries, and vitamin D deficiency in childhood is reemerging as major public health issue.Objectives: To determine the frequencies of 25-hydroxyvitamin D (25(OH)D) deficiency and insufficiency in children and adolescents.<p class="abste...

Introduction: Brain-lung-thyroid syndrome (BATS) is a rare autosomal dominant inherited syndrome that develops due to mutations in the NKX2-1 gene, which is a thyroid transcription factor, and is characterized by respiratory distress in the neonatal period, congenital hypothyroidism, and choreatetosis. Approximately half of affected patients have the complete triad, with 30% affected by the neurological phenotype (motor developmental delay, gait difficulties, choreatetosis, hy...

Background: Cigarette contains more than 4,000 toxins and is suspected of having endocrine-disrupting properties. Anogenital distance (AGD) is an important biomarker of fetal androgen exposure and intrauterine masculinization. There are limited number of studies examining whether AGD is affected by prenatal smoke-exposure. The aim of this study is to investigate the effects of maternal smoking during pregnancy on newborn infants' AGD.<p class="abstext"...

Background: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced sensitivity of target tissues to thyroid hormone.Objective and hypotheses: We describe the clinical, biochemical data and mutation analysis of two patients and their families with (RTH).Method: We conducted clinical studies and genetic analysis of these two patients and their families.Results: First patient refer...

Introduction: Thyroid abnormalities such as subclinical or overt hypothyroidism are common in children with Down syndrome (DS) with ranges from 4% to 19.5%, whereas Graves´ disease (GD) is extremely rare (ranges 0.6%-0.9 %).Aims: To evaluate clinical features, course, and treatment of GD in children with DS.Patients and Methods: Among 161 children with GD, diagnosed between 1...