ISSN:1308-5727 E-ISSN:1308-5735

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Case Report

Hypophosphatasia: Novel Mutation Associated With An Atypical Newborn Presentation
  • Roger Esmel-Vilomara
  • Susana Hernández
  • Ariadna Campos-Martorell
  • Eva González-Roca
  • Diego Yeste
  • Félix Castillo
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0263 PMID:30929401
Abstract
Aromatase Deficiency in Two Siblings with 46, XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in CYP19A1 Gene
  • Samim Ozen
  • Tahir Atik
  • Ozlem Korkmaz
  • Huseyin Onay
  • Damla Goksen
  • Ferda Ozkınay
  • Ozgur Cogulu
  • Sukran Darcan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0198 PMID:30968679
Abstract
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
  • Esra Isik
  • Huseyin Onay
  • Tahir Atik
  • Asli Ece Solmaz
  • Samim Ozen
  • Ozgur Cogulu
  • Sukran Darcan
  • Ferda Ozkinay
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0023 PMID:31088041
Abstract
Carney Complex: Unusual Presentation
  • Aydilek D. Cakır
  • Hande Turan
  • Tiraje Celkan
  • Nil Comunoğlu
  • Oya Ercan
  • Olcay Evliyaoglu
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0043 PMID:31117334
Abstract
Catecholamine-Induced Myocarditis in a Child with Pheochromocytoma
  • S. Ahmet Uçaktürk
  • Eda Mengen
  • Emine Azak
  • İbrahim İlker Çetin
  • Pınar Kocaay
  • Emrah Şenel
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0045 PMID:31208160
Abstract
A Rare Etiology of 46, XY Disorder of Sex Development and Adrenal Insufficiency: A case of MIRAGE syndrome caused by mutations in SAMD9 gene
  • Eda Mengen
  • Aynur Kucukcongar Yavas
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0053 PMID:31208161
Abstract
Hypoprolactinemia as a clue to diagnosis of mild central hypothyroidism due to IGSF1 deficiency
  • Anastasios Papadimitriou
  • Anna Papadopoulou
  • Kleanthis Kleanthous
  • Dimitrios T. Papadimitriou
  • Vassiliki Papaevangelou
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0085 PMID:31448769
Abstract
A novel missense mutation in human Receptor Roundabout-1 (ROBO1) gene associated with pituitary stalk interruption syndrome
  • Ziqin Liu
  • Xiaobo Chen
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0309 PMID:31448886
Abstract
A duplication upstream of SOX9 associated with SRY negative 46,XX ovotesticular disorder of sex development: A case report
  • Eda Mengen
  • Gülsüm Kayhan
  • Pınar Kocaay
  • Seyit Ahmet Uçaktürk
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0101 PMID:31476840
Abstract
Early Onset Diabetes in Two Children due to Progeria, a Monogenic Disease of DNA Repair
  • Martin Holder
  • Valerie Schwitzgebel
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0126 PMID:31752481
Abstract
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(C.1957-2A>C) Mutation in GLI2 Gene
  • Meliha Demiral
  • Huseyin Demirbilek
  • Edip Unal
  • Ceren Damla Durmaz
  • Serdar Ceylaner
  • Mehmet Nuri Ozbek
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0142 PMID:31782289
Abstract
Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central
  • Pembe Soylu Ustkoyuncu
  • Songül Gokay
  • Esra Eren
  • Durmus Dogan
  • Gokce Yıldız
  • Aysegul Yılmaz
  • Fatma Turkan Mutlu
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0144
Abstract

Review

Syndromic Disorders Caused by Disturbed Human Imprinting
  • Diana Carli
  • Evelise Riberi
  • Giovanni Battista Ferrero
  • Alessandro Mussa
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0249 PMID:30968677
Abstract
Current Diagnosis and Treatment, and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Youth
  • Samim Ozen
  • Baris Akinci
  • Elif A. Oral
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0124 PMID:31434462
Abstract
New Features for Child Metrics: Further Growth References and Blood Pressure Calculations
  • Korcan Demir
  • Ergun Konakçı
  • Güven Özkaya
  • Belde Kasap Demir
  • Samim Özen
  • Murat Aydın
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0127 PMID:31475511
Abstract
Metabolic Bone Disease In Premature Neonates- An Unmet Challenge
  • Swathi Chacham
  • Rachna Pasi
  • Madhuradhar Chegondi
  • Najeeb Ahmad
  • Shanti Bhusan Mohanty
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0091 PMID:31674171
Abstract
Managing Paediatric Growth Disorders: Integrating Technology Into a Personalised Approach
  • Jenny Child
  • Christine Davies
  • Katie Frost
  • Eleanor McDermid
  • Rachel Pidcock
  • John Weinman
  • Martin O. Savage
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0153 PMID:31744271
Abstract
A proposal for the interpretation of the serum IGF-I concentration as part of laboratory screening in children with growth failure
  • Jan M Wit
  • Martin Bidlingmaier
  • Christiaan de Bruin
  • Wilma Oostdijk
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0176 PMID:31842524
Abstract
Bronchial Carcinoid tumour as a rare cause of Cushing’s syndrome in children – A case report and review of literature
  • Rahul Saxena
  • Manish Pathak
  • Ravindra Shukla
  • Arvind Sinha
  • Poonam Elhence
  • Jyotsna N Bharti
  • Pushpinder Khera
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0156
Abstract

Original Article

Triglyceride Glucose Index as a Surrogate Measure of Insulin Sensitivity in a Caucasian Pediatric Population
  • Valeria Calcaterra
  • Chiara Montalbano
  • Annalisa de Silvestri
  • Gloria Pelizzo
  • Corrado Regalbuto
  • Valeria Paganelli
  • Riccardo Albertini
  • Francesco Delle Cave
  • Daniela Larizza
  • Hellas Cena
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0024 PMID:31088046
Abstract
Can Nesfatin-1 Predict Hypertension in Obese Children?
  • Hatice Güneş
  • Filiz Alkan Baylan
  • Hakan Güneş
  • Fatih Temiz
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0072 PMID:31339256
Abstract
Treatment with depot leuprolide acetate in girls with idiopathic precocious puberty: What is the best parameter to decide the initial dose?
  • Dogus Vuralli
  • Ayfer Alikasifoglu
  • Irem Iyigun
  • Dicle Canoruc
  • Alev Ozon
  • Nazli Gonc
  • Nurgun Kandemir
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0060 PMID:31347350
Abstract
The Significance of Thiol/Disulfide Homeostasis and Ischemia-Modified Albumin Levels in Assessing the Oxidative Stress in Obese Children and Adolescents
  • Eda Mengen
  • Seyit Ahmet Uçaktürk
  • Pınar Kocaay
  • Özlem Kaymaz
  • Salim Neşelioğlu
  • Özcan Erel
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0039 PMID:31414586
Abstract
Relations of Macular Variability with Anthropometric Measurements, Metabolic Parameters and Inflammatory Markers in Children and Adolescents with Metabolic Syndrome: A Cross-Sectional Study
  • Hakan Öztürk
  • Bediz Özen
  • Gönül Çatlı
  • Bumin Dündar
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0082 PMID:31434461
Abstract
Prevalence of Obesity and Metabolic Syndrome in Children with Type 1 Diabetes: A comparative assessment based on criteria established by WHO, IDF and NCEP
  • Özlem YAYICI KÖKEN
  • Cengiz KARA
  • Gülay CAN YILMAZ
  • Hasan Murat AYDIN
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0048 PMID:31434460
Abstract
Growth and Adult Height during Human Growth Hormone Treatment in Chinese Children with Multiple Pituitary Hormone Deficiency Caused by Pituitary Stalk Interruption Syndrome: A Single Centre Study
  • Fengxue Wang
  • Jinyan Han
  • Zengmin Wang
  • Xiaohong Shang
  • Guimei Li
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0086 PMID:31475508
Abstract
Assessment of bisphenol A levels in preschool children-Results of a human biomonitoring study in Ankara, Turkey
  • İsmet Çok
  • Özlem T. İkidağ
  • Dilek Battal
  • Ayça Aktaş
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0087 PMID:31475509
Abstract
Effects of 5-Hydroxymethylfurfural on Pubertal Development of Female Wistar Rats
  • Selin Elmaogullari
  • Elcin Kadan
  • Elvan Anadol
  • Ayris Gokceoglu
  • Semra Cetinkaya
  • Gul Fatma Yarim
  • Seyit Ahmet Ucakturk
  • Zehra Aycan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0080 PMID:31475510
Abstract
Evaluation of Thyroid Function Tests in Children with Chronic Liver Diseases
  • Ş. Şebnem ÖN
  • Sezer ACAR
  • Korcan DEMİR
  • Ayhan ABACI
  • Yeşim ÖZTÜRK
  • Sinem KAHVECİ ÇELİK
  • Ece BÖBER
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0029 PMID:31486329
Abstract
Evaluation of Turner Syndrome Knowledge among Physicians and Parents
  • Berna Eroğlu Filibeli
  • Nesrin Havare
  • Huriye Erbak Yılmaz
  • Julide Gülizar Yıldırım
  • Gönül Çatlı
  • Bumin N. Dündar
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0041 PMID:31486330
Abstract
Nationwide Hypophosphatemic Rickets Cohort Study
  • Zeynep Şıklar
  • Serap Turan
  • Abdullah Bereket
  • Firdevs Baş
  • Tülay Güran
  • Azad Akberzade
  • Ayhan Abacı
  • Korcan Demir
  • Ece Böber
  • Mehmet Nuri Özbek
  • Cengiz Kara
  • Şükran Poyrazoğlu
  • Murat Aydın
  • Aslı Kardelen
  • Ömer Tarım
  • Erdal Eren
  • Nihal Hatipoğlu
  • Muammer Büyükinan
  • Nesibe Akyürek
  • Semra Çetinkaya
  • Elvan Bayramoğlu
  • Beray Selver Eklioğlu
  • Ahmet Uçaktürk
  • Saygın Abalı
  • Damla Gökşen
  • Yılmaz Kor
  • Edip Ünal
  • İhsan Esen
  • Ruken Yıldırım
  • Onur Akın
  • Atilla Çayır
  • Emine Dilek
  • Birgül Kırel
  • Ahmet Anık
  • Gönül Çatlı
  • Merih Berberoğlu
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0098 PMID:31514490
Abstract
sRAGE Concentration İncreases Following the Treatment of Severe Diabetic Ketoacidosis
  • William H. Hoffman
  • Takaki Ishikawa
  • James Blum
  • Naoto Tani
  • Tomoya Ikeda
  • Carol M. Artlett
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0076 PMID:31514489
Abstract
The Effect of the Pubertal Stage on Irisin Levels in Male Adolescents: A Novel Myokine
  • Demet Taş
  • Alkım Akman Öden
  • Sinem Akgül
  • Ziya E Metin
  • Aslı Pınar
  • Nuray Kanbur
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0119 PMID:31514491
Abstract
Association of Total and High Molecular Weight Adiponectin with Components of Metabolic Syndrome in Mexican Children
  • Javier A Magaña Gomez
  • Daniela Moreno-Mascareño
  • Carla E. Angulo Rojo
  • Duarte de la Peña Gisela
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0113 PMID:31552725
Abstract
The Incidence and Demographical Distribution of Type 1 Diabetes Mellitus in Children Aged 16 or Younger Between 2000 and 2016 in Northern Cyprus
  • Umut Mousa
  • Hasan Sav
  • Osman Koseoglulari
  • Ayse Sahin
  • Nese Akcan
  • Serap Soytac Inanclı
  • Ruveyde Bundak
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0109 PMID:31552726
Abstract
The Effects of Risk Behaviors and Orthorexic Behavior on the Glycemic Control in Adolescents with Type 1 Diabetes
  • Demet Taş
  • Eda Mengen
  • Pınar Kocaay
  • Seyit Ahmet Uçaktürk
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0128 PMID:31722516
Abstract
The Effects of Prehospital Care on Outcome in Pediatric Diabetic Ketoacidosis
  • Caner Turan
  • Ali Yurtseven
  • Elif Gokce Basa
  • Damla Goksen
  • Eylem Ulas Saz
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0121 PMID:31722517
Abstract
Soluble CD40 ligand levels in children with newly diagnosed Graves' disease
  • Kotb Abbass Metwalley
  • Hekma Saad Farghaly
  • Duaa Mohammed Raafat
  • Asmaa Mohammed Ismail
  • Ghada Mohamed Saied
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0108 PMID:31782290
Abstract
Intramuscular short-term ACTH test for the determination of adrenal function in children: safe, effective and reliable
  • Elif Özsu
  • Zeynep Şıklar
  • Esra Bilici
  • Ayşegül Ceran
  • Rukiye Uyanık
  • Tuğba Çetin
  • Zehra Aycan
  • Merih Berberoğlu
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0099 PMID:31842523
Abstract
Vitamin D Status Across Age Groups in Turkey: Results of 108742 Samples from a Private Laboratory
  • Gül Yeşiltepe-Mutlu
  • Ekin Deniz Aksu
  • Abdullah Bereket
  • Şükrü Hatun
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0097
Abstract
Mutations within The Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
  • Fatma Derya Bulut
  • Semine Özdemir Dilek
  • Damla Kotan
  • Eda Mengen
  • Fatih Gürbüz
  • Bilgin Yüksel
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2020.2019.0191
Abstract
The results of 16 years iodization: Assessment of iodine deficiency among school-age children in Antalya, Turkey
  • Gamze Çelmeli
  • Yusuf Çürek
  • İkbal Özen Kücükçetin
  • Zümrüt Arslan Gülten
  • Sebahat Özdem
  • Sema Akçurin
  • İffet Bircan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2020.2019.0168
Abstract
Internipple Distance and Internipple Index in Prepubertal Turkish Girls
  • Seda Erişen Karaca
  • Şengul Cangur
  • İlknur Aslanoğlu
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2020.2019.0161
Abstract

Letter to the Editor

No Involvement of Distal Lower Limbs in The First Report of Iranian Patient with Acromesomelic Dysplasia, Maroteaux Type: A Case Study
  • Hossein Moravej
  • Mozhagn Moghtaderi
  • Sara Mostafavi
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0090 PMID:31339259
Abstract
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Latest Update: 17.01.2020
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