hrp0086p2-p329 | Diabetes P2 | ESPE2016

The Prevalence of Dyslipidemia and Associated Factors in Children and Adolescent with Type I Diabetes

Bulut Tuba , Demirel Fatma , Metin Ayşe

Background: Dyslipidemia increases the frequency and severity of micro- and macro-vascular complications of type 1 diabetes.Objective and hypotheses: The present study aims to determine the prevalence of dyslipidemia and its association with clinical and laboratory findings in diabetic children and adolescents.Methods: The study included 202 children and adolescents with type 1 diabetes. Demographic data and laboratory findings wer...

hrp0086p1-p624 | Growth P1 | ESPE2016

A Novel GH1 Mutation in a Family with Autosomal-Dominant Type II Isolated Growth Hormone Deficiency

Gurbuz Fatih , Elmaogullari Selin , Arasli Aslihan , Demirel Fatma

Background: The familial type of isolated growth hormone deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type IA and IB, the autosomal-dominant type II, and X-linked recessive type III. Phenotype-genotype correlations are notoriously difficult to be established. Herein, we described the patient who has autosomal-dominant type II IGHD due to a novel GH1 mutation.Objec...

hrp0086p1-p889 | Thyroid P1 | ESPE2016

Evaluation of Body Composition via Bioelectrical Impedance Analysis in Children with Subclinical Hypothyroidism and Effect of LT4 Treatment; Follow-up Results

Gunes Sevinc Odabasi , Ergur Ayca Torel , Kilinc Fatma Nisanci

Background: It’s well known that overt hypothyroidism leads to weight and body fat content increase but there is limited data in the literature about the effect of subclinical hypothyroidism (SH) on body composition parameters.Objective and hypotheses: In our previous study body composition parameters were evaluated in patients with SH and it was concluded that trunk fat mass was increased in SH patients before any alterations in basal metabolism ra...

hrp0082p3-d2-776 | Fat Metabolism & Obesity (1) | ESPE2014

Prevalence of Dyslipidemia and Associated Factors Among Obese Turkish Children

Elmaogullari Selin , Tepe Derya , Ucakturk Ahmet , Demirel Fatma

Background: Obesity prevalence among children increased worldwide in last three decades. Childhood onset obesity is associated with increased mortality and morbidity related to cardiovascular diseases during adulthood. Dyslipidemia has a fundamental role in the pathogenesis of cardiovascular diseases.Objective and hypotheses: This study is designed to evaluate the prevalence and related factors of dyslipidemia among obese children and adolescent.<p c...

hrp0082p3-d1-936 | Puberty and Neuroendocrinology | ESPE2014

Association of Van Wyk Grumbach and Debre Semelaigne Syndromes in Two Cases with Severe Hypothroidism

Demirel Fatma , Oden Alkim , Tayfun Meltem , Ucakturk Ahmet , Gungor Ali

Background: Van Wyk Grumbach (VWG) and Kocher Debre Semelaigne (KDS) syndromes are rare syndromes with clinical manifestation of hypothyroidism associated with precious pseudo puberty and myopathic pseudomuscular hypertrophy. We present two cases that have the characteristic of both VWGS and KDSS syndromes developed in association with a long-term untreated hypothyroidism.Case 1: Seventeen years old girl was referred to our hospital due to menstrual irre...

hrp0084p2-567 | Thyroid | ESPE2015

Case Report: Resistance of Thyroid Hormone due to a Novel Thyroid Hormone Receptor β-Gene Mutation

Tayfun Meltem , Elmaogullari Selin , Yesilyurt Ahmet , Demirel Fatma

Background: Thyroid hormone resistance (THR) is an autosomal dominant, rare syndrome and result of the reduction sensitivity of target tissues to thyroid hormone. There is usually normal or slightly elevated TSH concentration with increase in serum fT3 and fT4 concentrations. The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone β (THR β) gene mutations. THR is defined by Refetoff et al. at 1967. THR mutati...

hrp0098p3-243 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Aphallia: a case report

Taazibt Akli , Berkoune Fatma , Ouki Halla , Chanegriha Mounira

Aphallia is a very rare congenital anomaly of urogenital tractus, it's rarely described, only hundred cases are reported in world literature. We report a case of A.B 2 months old who presents an aphallia in male with well developed testicles, the urethral meatus is opening to the anterior wall of the anal sphincter, ultrasound examination showed the absence of the penis and the corpora cavernosa, confirmed by the magnetic imaging. The radiological explorations of digestiv...

hrp0086p1-p915 | Thyroid P1 | ESPE2016

Macro TSH- a Rare Cause of High Levels of TSH

Elmaogullari Selin , Yilmaz Aslihan Arasli , Ucakturk Seyit Ahmet , Tayfun Meltem , Gurbuz Fatih , Ucar Fatma , Bulut Erdem , Hattori Naoki , Demirel Fatma

Background: Macro TSH is a high molecule weighed complex with low bioactivity that is comprised of TSH and anti-TSH antibodies. Potentiality of macro TSH should be kept in mind in clinically euthyroid and asymptomatic patients with normal free T4 and T3 levels and relatively high TSH levels. Diagnosis of macro TSH is suspected if polyethylene glycol (PEG) precipitable TSH exceeds %75 and confirmed if high molecule weighed TSH is shown with gel filtration ...

hrp0092p1-94 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Familial Occurrence of Turner Syndrome in two Tunisian Families

Gargouri Imen , Kmiha Sana , Abdelhedi Fatma , Hadjkacem Faten , Safi Wajdi , Loukil Fatma , Mnif Mouna , Hachicha Mongia , Kamoun Thouraya , Belguith Neila , Abid Mohamed

Background: Turner syndrome (TS) is a common genetic disorder with an incidence of 1 in 2500 live births due to chromosomal errors resulting in monosomy for the X chromosome with or without mosaicism. Familial TS has been rarely reported. We report two families having TS.Methods: We report 6 patients with TS who had been referred to the Endocrinology department and Pediatric department at Hedi Chaker hospital, Sfax, Tuni...

hrp0095fc5.6 | Adrenals and HPA Axis | ESPE2022

ACTH Stimulation Decreases Ischemia-Modified Albumin Levels In Vivo

Muratoglu Sahin Nursel , Esen Senem , Savas Erdeve Senay , Budak Fatma , Neselioglu Salim , Erel Ozcan , Cetinkaya Semra

Introduction: The production of ischemia-modified albumin (IMA) is associated with the production of reactive oxygen species modifying the metal-binding sites of albumin. IMA is considered a non-specific early biomarker in the evaluation of oxidative stress status. Cortisol is known to trigger anti-inflammatory actions through genomic and non-genomic pathways that eventually lead to decreased production of cytokines, chemokines, and inducible nitric oxide synt...