hrp0089p2-p389 | Thyroid P2 | ESPE2018

A Neurological Disease Mimicking Central Hypothyroidism: MCT8 Deficiency

Demirbas Ozgecan , Eren Erdal , Tarim Omer

Introduction: Monocarboxylate transporter 8 (MCT8) is necessary for the transport of T3 to neurons. The case presented here is a male infant with neuromotor retardation initially treated for central hypothyroidism who showed no benefit from treatment and a final diagnosis of MCT8 deficiency was made.Case report: A male infant at 13 months of age was brought to the clinic because he was unable to sit without support. The perinatal history revealed that he...

hrp0092p1-329 | Diabetes and Insulin (2) | ESPE2019

Evaluation of AGP Reports in Patients with Type 1 Diabetes Using Intermittently Viewed Continuous Glucose Measurement System (iCGM)

Eren Erdal , Ongen Yasemin Denkboy , Demirbas Ozgecan , Tarim Omer

Introduction: Reduction in glycemic variability and HbA1c levels are achieved by the use of continuous glucose measurement systems (CGM) in the patient with Type 1 diabetes mellitus (T1DM). Intermittently viewed CGM (iCGM) using flash technology have been used increasingly by diabetics and their families because of practicality. Evaluating of ambulatory glucose profiles (AGP) is very important in the management of T1DM.Aim and Me...

hrp0086p2-p279 | Diabetes P2 | ESPE2016

Mucormycosis and Type 1 Diabetes: A Case Report

Eren Erdal , Celebi Solmaz , Sali Enes , Topac Tuncay , Tarim Omer

Background: Mucormycosis which is an invasive fungal disease and commonly seen in immunocompromised patients is very rare in the diabetic children.Case report: We present a case with type 1 diabetes with mucormycosis. A 14-year-old male patient was referred to our department due to polyuria, polydipsia, weight loss, headache, altered consciousness, fever, and rhinorrhea. After the diabetic ketoasidosis treatment, left facial paralysis, anisocoria, and pt...

hrp0089p2-p320 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Pituitary Stalk Interruption Syndrome (PSIS) is Not a Rare Cause of the Congenital Hypopituitarism

Eren Erdal , Yazici Zeynep , Demirbas Ozgecan , Gulleroglu Nadide Basak , Tarım Omer

Aim: Pituitary hypoplasia, empty sella syndrome, and ectopic neurohypophysis are common causes of pituitary MRI of the patient with congenital hypopituitarism. We aimed to search clinical and radiological examination of the patient with congenital hypopituitarism.Method: We evaluated age, diagnosis, laboratory evaluation, hormone deficiencies, accompanying diseases, and MR images of the patients with multiple pituitary hormone deficiency.<p class="ab...

hrp0084p3-684 | Bone | ESPE2015

VDR Gene Analysis Results of Four Patients with Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets

Papatya Cakir Esra Deniz , Aldemir Ozgur , Ucakturk SeyitAhmet , Eren Erdal , Ozen Samim

Background: Hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR) caused by vitamin D defective receptor.Objective and hypotheses: We performed VDR gene analysis four patients with alopecia, skeletal dysplasia, and hypocalcaemia.Method: Genomic DNA extracted from peripheric blood. Whole gene sequence analysis was performed.Results: We found homozigot p.Q152* (c.454G>T) mutation three patients. Two ...

hrp0082p2-d3-351 | Diabetes (2) | ESPE2014

Wolcott-Rallison Syndrome: New Mutations and Report of Two Cases

Eren Erdal , Cakir Esra Deniz Papatya , Bozdemir Sefika Elmas , Celebi Solmaz , Julier Cecile , Saglam Halil , Tarim Omer

Background: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...

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...

hrp0084p3-642 | Bone | ESPE2015

Comparison of Treatment Alternatives for Hypercalcemia due to Vitamin D Intoxication in Children

Demir Korcan , Doneray Hakan , Yesilkaya Ediz , Kara Cengiz , Atay Zeynep , Cetinkaya Semra , Cayir Atilla , Anik Ahmet , Eren Erdal , Demirel Fatma , Yilmaz Gulay Can , Ergur Ayca Torel , Kendirci Mustafa , Aycan Zehra , Bereket Abdullah , Aydin Murat , Orbak Zerrin , Ozkan Behzat

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system (www.favorsci.org) to collect data of chil...

hrp0082fc5.3 | Neuroendocrinology | ESPE2014

Loss of Function Mutations in pnpla6 Cause Hypogonadotropic Hypogonadism due to Impaired LH Release from Pituitary Gonadotropes

Topaloglu Ali Kemal , Lomniczi Alejandro , Kretzschmar Doris , Dissen Gregory A , Damla Kotan Leman , McArdle Craig A , Koc A. Filiz , Hamel Ben C , Guclu Metin , Papatya Esra D , Eren Erdal , Mengen Eda , Gurbuz Fatih , Cook Mandy , Castellano Juan M , Kekil M. Burcu , Mungan Neslihan O , Yuksel Bilgin , Ojeda Sergio R

Background: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.Patients and methods: We studied a cohort of multiplex families with GHS through autozygosity mapping and whole exome sequencing.Results: We identified patients from three independent families carrying loss-...

hrp0084p1-112 | Puberty | ESPE2015

Aetiological Spectrum and Clinical Characteristics of 129 Children with Gonadotropin Independent Precocious Puberty: A Nationwide Cohort Study

Atay Zeynep , Yesilkaya Ediz , Erdeve Senay Savas , Akin Leyla , Eren Erdal , Doger Esra , Aycan Zehra , Abali Zehra Yavas , Akinci Aysehan , Siklar Zeynep , Ozen Samim , Kara Cengiz , Tayfun Meltem , Tutunculer Filiz , Karabulut Gulcan Seymen , Karaguzel Gulay , Saglam Halil , Bideci Aysun , Kurtoglu Selim , Bereket Abdullah , Turan Serap , Sari Erkan , Cetinkaya Semra , Guran Tulay

Background: Gonadotropin independent precocious puberty (GIPP) is caused by a heterogenous group of disorders. With the exception of congenital adrenal hyperplasia (CAH), disorders causing GIPP are uncommon, and there are no studies evaluating the etiologic distribution of GIPP in a large cohort.Objective and hypotheses: To find out the relative frequencies of each etiological group in patients with non-CAH GIPP and also to evaluate the clinical and labo...