Case Report

A Cleidocranial Dysplasia Case with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment

• Emine Çamtosun
• Ayşehan Akıncı
• Emine Demiral
• İbrahim Tekedereli
• Ahmet Sığırcı

Perinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and one year follow-up under enzyme replacement therapy; a case report

• Bülent Hacıhamdioğlu
• Gamze Özgürhan
• Catarina Pereira
• Emre Tepeli
• Gülşah Acar
• Serdar Cömert

Magnesium and anti-phosphate treatment with bisphosphonates for Generalised Arterial Calcification of Infancy: a case report

• Fatma Dursun
• Tülay Atasoy Öztürk
• Serçin Güven
• Heves Kırmızıbekmez
• Gülcan Seymen Karabulut
• Sevinç Kalın
• Betül Sözeri

Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy

• Joanna Oswiecimska
• Mateusz Dawidziuk
• Tomasz Gambin
• Katarzyna Ziora
• Marta Marek
• Sylwia Rzonca
• D. Lys Guilbride
• Shalini N. Jhangiani
• Anna Obuchowicz
• Alicja Sikora
• James R. Lupski
• Wojciech Wiszniewski
• Pawel Gawlinski

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

Original Article

Elevated Random Luteinizing Hormone Is Unreliable Indicator for Pubertal Suppression in Girls Treated with Monthly Leuprolide for Idiopathic Central Precocious Puberty

• Pattara Wiromrat
• Ouyporn Panamonta

Early menarche is a risk factor of short stature in young Korean female: Epidemiologic study

• Sol Kang
• Yoon Mo Kim
• Jun Ah Lee
• Dong Ho Kim
• Jung Sub Lim

Risk factors for childhood overweight and obesity in Ukraine and Germany

• Vira Yakovenko
• Laura Henn
• Markus Bettendorf
• Natalia Zelinska
• Galyna Soloviova
• Georg F. Hoffmann
• Juergen Grulich-Henn

The Evaluation of Etiological Distribution and the Rate of Congenital Hypothyroidism among the Cases Referred from National Screening Program

• Zeynep Donbaloglu
• Şenay Savaş Erdeve
• Semra Çetinkaya
• Zehra Aycan

Associations Between Serum Uric Acid Levels and Cardiometabolic Risk, Renal İnjury in Obese and Overweight Children

• Deniz Özalp Kızılay
• Semra Şen
• Betül Ersoy

Evaluation of IGF1/IGFBP3 Molar Ratio as an Effective Tool for Assessing the Safety of GH Therapy in Small-for-Gestational-Age, GH-Deficient and Prader-Willi Children

• Meriem Gaddas
• Laurence Périn
• Yves Le Bouc

No Associations Between Serum Lipid Levels or HOMA-IR and Asthma in Children and Adolescents: a NHANES Analysis

• Min Lu
• Beirong Wu
• Rong Qiao
• Haoxiang Gu
• Ying Din
• Xiaoyan Dong

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

Intrauterine twin discordancy followed by partial postnatal catch-up growth in a girl with a pathogenic IGF1R mutation

• Paula Ocaranza
• Monique Losekoot
• Marie JE Walenkamp
• Christiaan de Bruin
• Jan M Wit
• Veronica Mericq

Antimüllerian Hormone Levels Of Infants With Premature Thelarche

• Nursel Muratoglu Sahin
• Elvan Bayramoglu
• Hatice Nursun Ozcan
• Erdal Kurnaz
• Meliksah Keskin
• Senay Savas Erdeve
• Semra Cetinkaya
• Zehra Aycan

The Development of Insulin Treatment Self-Management Scale Child Form (ages 8-18) and Parent Form

• Çağrı ÇÖVENER ÖZÇELİK
• Eda AKTAŞ
• Nesrin ŞEN CELASİN
• Gülten KARAHAN OKUROĞLU
• Şükriye ŞAHİN

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

Review

Pitfalls with Vitamin D Research in Musculoskeletal Disorders and Recommendations on How to Avoid Them

• Gary M. Kiebzak
• Kevin M. Neal
• Pooya Hossienzadeh
• Robert C. Olney
• Michael A. Levine

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

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