ESPE Abstracts

Context: PPP2R3C encodes the B”gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...

Background: Puberty is a dynamic period of physical growth. Genetic factors, increasing prevalence of adiposity, environmental factors and the widespread presence of endocrine-disrupting chemicals are suspected to contribute to the trend of earlier pubertal onset.Method: The study group consists of 32 girls diagnosed with central puberty precocious. The eating habits and physical activity status were evaluated with a detailed questionnaire. Daily calorie...

Beckwith-Wiedemann syndrome (BWS) is a congenital tumor-predisposition syndrome of which around 70% develops because of the methylation defects in the imprinted genes at chromosome 11p15.5. KCNQ1OT1 hypomethylation is the most common underlying genetic aberration in sporadic the BWS, accounting for 50% of the sporadic cases but confers the least tumor risk. We present a 5 month-old girl who presented with an excessive weight gain, cushingoid face, arrested gro...

Background: Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin–neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.Objective and hypotheses: To determine clinical and molecular characteristics of patients with familial central DI from two different families.Method: The diagnosi...

Background: Polycystic ovary syndrome (PCOS) is a common endocrinological disorder of unclear etiopathogenesis characterized by hormonal and reproductive abnormalities which may coexist with metabolic disturbances.Objective and hypotheses: To investigate the role of endocrine disruptor bisphenol A (BPA) in etiopathogenesis of PCOS in adolescent girls. Additionally, we wished to investigate the relationship between BPA and metabolic parameters, insulin re...

Background: Polycystic ovary syndrome (PCOS), characterized by hyperandrojenemia, anovulatory periods and polycystic ovaries, is a disorder in which metabolic and reproductive abnormalities overlap. The etiopathogenesis is currently unclarified. Besides the evidence of genetic causes, environmental factors are considered to be involved in development of phenotype. Phthalates are widely used industrial chemicals and have several known untoward effects on human reproductive heal...

Introduction: Plasma triglyceride (TG) is formed by an exogenous pathway taken from food and by an endogenous pathway produced from the liver. Primer hypertriglyceridemia occurs by genetic reasons. Higher TG levels occurs in lipoprotein lipase (LPL), ApoC2, ApoA5 gene defects. Secondary hypertriglyceridemia is caused by obesity, insulin resistance, alcohol and some drugs. In that study, we evaluated 10 patients with primer hypertriglyceridemia regards to clini...

Objectives: We aimed to evaluate the performance of lipid accumulation product (LAP) to predict non-alcoholic fatty liver disease (NAFLD) in obese children.Methods: Eighty obese chidren (39 girl) were included in this study (6–18 years). Height, weight, body mass index (BMI), waist circumference (WC), puberty stage, blood pressure (n=28), fasting glucose, fasting insulin, HOMA-IR, alanine aminotransferase (ALT), aspartate aminotransferase (...

Introduction: Antithyroid Drugs (ATD) are generally preferred at the onset of treatment with no consensus on the duration of ATD (propylthiouracil, methymasole) treatment Graves disease in children.Objective: Examining the effectiveness of ATD treatment on children and adolescents and determining the risk factors of remission and relapse.Method: A total of 45 cases with ages varying between 1–18 years diagnosed with Graves dis...

Background: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare condition inherited as an autosomal dominant trait. The responsible genetic defect is in the region 10p. Phenotype is very similar to DiGeorge Syndrome (DGS) which occurs due to 22q11 microdeletion.Method: An 8-year-old girl was referred to Pediatric Endocrinology outpatient department because of hypoparathyroidism. She was born at 36 weeks after a normal pregnancy and ...