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

Ahead Of Print

Case Report

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
  • Xia Zhang
  • Yanjie Fan
  • Xiaomin Liu
  • Ming Ang Zhu
  • Yu Sun
  • Hui Yan
  • Yunjuan He
  • Xiantao Ye
  • Xuefan Gu
  • Yongguo Yu
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0220 PMID:30630810
Abstract
Isolated Growth Hormone Deficiency Type II due to a novel GH1 mutation: A Case Report
  • Ahmad Kautsar
  • Jan M. Wit
  • Aman Pulungan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0305 PMID:30678423
Abstract
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent
  • Sukran Poyrazoglu
  • Vivian Hwa
  • Firdevs Bas
  • Andrew Dauber
  • Ron Rosenfeld
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0301 PMID:30717585
Abstract
A Case of Autosomal Dominant Osteopetrosis Type II with a CLCN7 Gene Mutation
  • Sol Kang
  • Young Kyung Kang
  • Jun Ah Lee
  • Dong Ho Kim
  • Jung Sub Lim
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0229 PMID:30759959
Abstract
Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation
  • Ozlem Nalbantoglu
  • Gulcin Arslan
  • Ozge Koprulu
  • Filiz Hazan
  • Semra Gursoy
  • Behzat Ozkan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0230 PMID:30905142
Abstract
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
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
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
Abstract

Original Article

Glucose Metabolism Evaluated By Glycated Hemoglobin And Insulin Sensitivity Indexes In Children Treated With Recombinant Human Growth Hormone
  • M. C. Pellegrin
  • D. Michelon
  • E. Faleschini
  • C. Germani
  • E. Barbi
  • G. Tornese
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0281 PMID:30819016
Abstract
Impact of Socioeconomic Characteristics on Metabolic Control in Children with Type One Diabetes in a Developing Country
  • Abeer Alassaf
  • Rasha Odeh
  • Lubna Gharaibeh
  • Sarah Ibrahim
  • Kamel Ajlouni
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0014 PMID:30991788
Abstract
Novel Mutations in Obesity-Related Genes in Turkish Children with Non-Syndromic Early Onset Severe Obesity: A Multicentre Study
  • Ayşehan Akıncı
  • Doga Turkkahraman
  • Ibrahim Tekedereli
  • Leyla Özer
  • Bahri Evren
  • İbrahim Sahin
  • Tarkan Kalkan
  • Yusuf Çürek
  • Emine Çamtosun
  • Esra Doğer
  • Aysun Bideci
  • Ayla Güven
  • Erdal Eren
  • Özlem Sangün
  • Atilla Çayır
  • Pelin Bilir
  • Ayça Törel Ergür
  • Oya Ercan
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0021 PMID:30991789
Abstract
Accuracy of Tri-ponderal Mass Index and Body Mass Index in Estimating Insulin Resistance, Hyperlipidemia, Impaired Liver Enzymes or Thyroid Hormone Functions and Vitamin D Level in Children and Adolescents
  • Nese Akcan
  • Ruveyde Bundak
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0279 PMID:30991791
Abstract
The Study of Serum Neuron-Specific Enolase and S100 calcium-binding protein B in Pediatric Diabetic Ketoacidosis
  • Hatem Hamed Elshorbagy
  • Naglaa Fathy Barseem
  • Akram Elshafey Elsadek
  • Ashraf Hamed Al-shokary
  • Yehia Hamed Abdel Maksoud
  • Sameh Elsayed Abdulsamea
  • Iman M. Talaat
  • Hany Abdelaziz Suliman
  • Naglaa M. Kamal
  • Waleed E. Abdelghani
  • Sanaa Mohammed Azab
  • Dalia Mohamed Nour El Din
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0280 PMID:31067852
Abstract
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
Clinical and Biochemical Phenotype of Adolescent Males with Gynecomastia
  • Milosz Lorek
  • Dominika Tobolska-Lorek
  • Barbara Kalina-Faska
  • Aleksandra Januszek- Trzciakowska
  • Aneta Gawlik
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0027 PMID:31117335
Abstract
Liver Biochemical Abnormalities in Adolescent Patients with Turner Syndrome
  • Małgorzata Wójcik
  • Anna Ruszała
  • Dominika Januś
  • Jerzy B. Starzyk
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0271 PMID:31117336
Abstract
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China
  • Xu A
  • Jing Cheng
  • Huiying Sheng
  • Zhe Wen
  • Yunting Lin
  • Zhihong Zhou
  • Chunhua Zeng
  • Yongxian Shao
  • Cuiling Li
  • Li Liu
  • Xiuzhen Li
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0046 PMID:31208162
Abstract
The subclinical Myocardial Dysfunction in Children with Euthyroid Hashimoto's Thyroiditis Demonstrated by Speckle Tracking Echocardiography
  • Emine Azak
  • Seyit Ahmet Ucakturk
  • Ibrahim Ilker Cetin
  • Hazım Alper Gursu
  • Eda Mengen
  • Utku Pamuk
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2018.0273 PMID:31218876
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
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
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
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
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
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
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
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
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
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
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
Achieving Optimal Short- and Long-Term Responses to Paediatric Growth Hormone Therapy
  • Jan M. Wit
  • Asma Deeb
  • Bassam Bin-Abbas
  • Angham Al Mutair
  • Ekaterina Koledova
  • Martin O. Savage
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0088 PMID:31284701
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
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
Abstract

Letter to the Editor

Letter to the Editor for manuscript entitled Extreme Premature Small for Gestational Age Infants Have Appropriate Catch-up Growth at Term Equivalence Compared with Extreme Premature Appropriate for Gestational Age Infants
  • Hüseyin Anıl Korkmaz
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2019.2019.0044 PMID:30991790
Abstract
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: 12.09.2019
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