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

Isolated Growth Hormone Deficiency Type II due to a novel GH1 mutation: A Case Report

• Ahmad Kautsar
• Jan M. Wit
• Aman Pulungan

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

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

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

Hypophosphatasia: Novel Mutation Associated With An Atypical Newborn Presentation

• Roger Esmel-Vilomara
• Susana Hernández
• Ariadna Campos-Martorell
• Eva González-Roca
• Diego Yeste
• Félix Castillo

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

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

Carney Complex: Unusual Presentation

• Aydilek D. Cakır
• Hande Turan
• Tiraje Celkan
• Nil Comunoğlu
• Oya Ercan
• Olcay Evliyaoglu

Catecholamine-Induced Myocarditis in a Child with Pheochromocytoma

• S. Ahmet Uçaktürk
• Eda Mengen
• Emine Azak
• İbrahim İlker Çetin
• Pınar Kocaay
• Emrah Şenel

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

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

A novel missense mutation in human Receptor Roundabout-1 (ROBO1) gene associated with pituitary stalk interruption syndrome

• Ziqin Liu
• Xiaobo Chen

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

Early Onset Diabetes in Two Children due to Progeria, a Monogenic Disease of DNA Repair

• Martin Holder
• Valerie Schwitzgebel

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

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

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

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

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

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

Clinical and Biochemical Phenotype of Adolescent Males with Gynecomastia

• Milosz Lorek
• Dominika Tobolska-Lorek
• Barbara Kalina-Faska
• Aleksandra Januszek- Trzciakowska
• Aneta Gawlik

Liver Biochemical Abnormalities in Adolescent Patients with Turner Syndrome

• Małgorzata Wójcik
• Anna Ruszała
• Dominika Januś
• Jerzy B. Starzyk

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

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

Can Nesfatin-1 Predict Hypertension in Obese Children?

• Hatice Güneş
• Filiz Alkan Baylan
• Hakan Güneş
• Fatih Temiz

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

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

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

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

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

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

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

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

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

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

sRAGE Concentration İncreases Following the Treatment of Severe Diabetic Ketoacidosis

• William H. Hoffman
• Takaki Ishikawa
• James Blum
• Naoto Tani
• Tomoya Ikeda
• Carol M. Artlett

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

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

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

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

The Effects of Prehospital Care on Outcome in Pediatric Diabetic Ketoacidosis

• Caner Turan
• Ali Yurtseven
• Elif Gokce Basa
• Damla Goksen
• Eylem Ulas Saz

Review

Syndromic Disorders Caused by Disturbed Human Imprinting

• Diana Carli
• Evelise Riberi
• Giovanni Battista Ferrero
• Alessandro Mussa

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

Current Diagnosis and Treatment, and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Youth

• Samim Ozen
• Baris Akinci
• Elif A. Oral

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

Metabolic Bone Disease In Premature Neonates- An Unmet Challenge

• Swathi Chacham
• Rachna Pasi
• Madhuradhar Chegondi
• Najeeb Ahmad
• Shanti Bhusan Mohanty

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

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

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