ESPE Abstracts

Introduction: Hypothyroidism without treatment usually leads to delayed puberty in pediatric patients, sometimes it may rarely lead Van Wyk Grumbach syndrome (VWGS) which is characterized by isosexual precocious puberty. Exact mechanism of VWSG is unknown. High thyroid stimulating hormone (TSH) levels may directly effect on follicular stimulating hormone (FSH) receptors and lead precocious puberty. Interestingly simple thyroid hormone replacement therapy resolves symptoms in t...

Introduction and Aim: The aim of this study was to investigate whether autoimmune Hashimoto’s thyroiditis (HT) increases the incidence of non-alcoholic fatty liver disease (NAFLD). In addition, the relationship between autoimmunity and the following factors was evaluated: Body Mass Index (BMI), body parameters measured by Bioelectric Impedance Analysis (BIA), and metabolic syndrome parameters.Methods: 43 newly diagnosed euthyroid girls with HT (14.4...

Objectives: We aimed to evaluate the performance of waist circumference triglyceride index(WTI) to predict non-alcoholic fatty liver disease(NAFLD) in obese children.Methods: In this study 139 obese children(71 girls) were included(6-18 years). Height, weight, body mass index(BMI), waist circumference(WC), puberty stage, blood pressure, and biochemical values were obtained from the medical records. SDS and percentiles we...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis.Aim: The purpose of this study was to investigate genotype-phenotype correlation, clinical findings and long-term outcomes in patients with CAH due to 11β-hydroxylase deficiency (11β-OHD) and 21-hydroxylase deficiency (21-OHD).Paients and methods...

Aim: 12,13-dihydroxy-9Z-octadecenoic acid (12,13-diHOME) is a lipokine secreted from brown adipose tissue, and it is shown to have positive effects on dyslipidemia. Acute exercise have been shown to lead to an increase in its secretion. It was aimed to investigate the relation of 12,13-diHOME with obesity, exercise and dyslipidemia for the first time in the adolescent age group.Methods: This is a prospective study includ...

Background: Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 46, XY DSD remain unknown in most of the casesAim: To identify genetic defects in patients with 46,XY DSD.Material and Methods: A total 76 DSD patie...

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessively transmitted disease and 95% of CAH cases are due to 21-hydroxylase deficiency (21-OHD). There are more than 100 mutations that cause CAH due to 21-OHD and the clinical expression of the disease is reported to correlate with mutated alleles.The aim: The aim of this study was to investigate responsible mutations and then to evaluate genotype...

Background: Disorders of sex development (DSD) are a heterogeneous group of disorders related to sex determination and differentiation. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 30–40% of the 46,XY DSD cases are not yet known.Aim: To identify genetic defects in patients with 46,XY DSD.Material and methods: Seventy-six patients with 46,XY DSD were stud...

Background: Desert Hedgehog (DHH) gene acts on early testicu-lar development, testis cord formation and differentiation of fetal Leydig cells. It also has a role in nerve sheath formation. DHH gene mu-tations is a very rare cause of 46,XY gonadal dysgenesis (GD). Gonadal tumors and peripheral neuropathy have been associated with DHH mutations.Aim: To present three patients with 46,XY GD due to novel homozygous DHH muta...

Background: 17β-Hydroxysteroid Dehydrogenase3 (17b-HSD3) deficiency is a rare autosomal recessive disorder, caused by a mutation of the HSD17B3 gene. The phenotypic spectrum ranges from normal-appearing female external genitalia to microphallus with hypospadias and variable degrees of genital ambiguity. 17b-HSD3 deficiency phenotype is variable, leading to misdiagnosis especially with partial androgen insensitivity syndrome and 5alfa reductase deficiency.<p c...