hrp0086p2-p157 | Bone & Mineral Metabolism P2 | ESPE2016

A Case with Lethal Perinatal Hypophosphatasia

Ucakturk Seyit Ahmet , Demirel Fatma , Gonulal Deniz , Elmaogullari Selin , Yilmaz Aslihan , Unal Sevim

Background: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase. HPP is associated with significant morbidity and mortality in pediatric patients, with high rates as high as %100 in perinatal-onset HPP. Serum alkaline phosphatase (ALP) activity is markedly reduced, which leads to increased serum/urine phosphoethanolamine (PEA), pyridoxal-5Â’phosphate (PLP). Asfota...

hrp0092p1-255 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Effects of 5-Hydroxymethylfurfural on Pubertal Development of Wistar Rats

Elmaogullari Selin , Kadan Elcin , Anadol Elvan , Gokceoglu Ayris , Cetinkaya Semra , Yarim Gul Fatma , Ucakturk Seyit Ahmet , Aycan Zehra

Introduction: 5-Hydroxymethylfurfural (HMF) is formed when sugars like glucose and fructose are heated in the presence of amino acids. HMF is naturally present in many foods and we are exposed to HMF in daily life. There are conflicting data on potential genotoxic, mutagenic, carcinogenic, DNA-damaging, organotoxic and enzyme inhibitory effects of HMF and its metabolites. We aimed to investigate toxic effects of HMF on reproductive system in peripubertal rats....

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 ...

hrp0086p2-p962 | Thyroid P2 | ESPE2016

Two Patients with Resistance to Thyroid Hormones

Papatya Cakir Esra Deniz , Gorukmez Orhan , Ucakturk Seyit Ahmet , Kibar Ayse Esin , Sangun Ozlem , Erdem Sevcan , Ozen Samim

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...

hrp0082p3-d3-697 | Bone (2) | ESPE2014

A Case with Odontohypophosphatasia and Family Investigation

Cakir Esra Deniz Papatya , Ture Mehmet , Saglam Halil , Ucakturk Seyit Ahmet , Erdol Sahin , Eren Erdal , Yakut Tahsin , Tarim Omer

Background: Early tooth loss could be the consequence of the local or systemic diseases. We present an odontohypophosphatasia case with otosomal dominant mutation in ALPL gene.Objective and hypotheses: We report a case with odontohypophosphatasia and his family investigation.Method: Three-years-old boy admitted to our pediatric endocrinology clinic with toothloss without any other dental or gingival disease. His serum levels calciu...

hrp0084p3-719 | Diabetes | ESPE2015

Fanconi-Bickel Syndrome due to a Novel SLC2A2 Mutation Presenting with Transient Neonatal Diabetes

Elmaogullari Selin , Demirel Fatma , Tepe Derya , Dincel Nida , Tayfun Meltem , Ucakturk Seyit Ahmet , Gurbuz Fatih , Jayne Houghton

Background: Fanconi-Bickel syndrome (FBS) is a glycogen storage disease caused by the homozygous mutations of SLC2A2 gene which codes GLUT2 protein. It is characterized by growth retardation, hepatomegaly and hypophosphataemic rickets. While most of the cases with FBS have fasting hypoglycaemia and postprandial hyperglycaemia, only few cases had been shown to have neonatal diabetes (ND).Case presentation: A 14 days old girl was admitted to hospital with ...