June 2024 volume 16 issue 2 www.jcrpe.

org ISSN: 1308-5727

E-ISSN: 1308-5735

Abdominal computed tomography and magnetic resonance images demonstrating a cystic lesion in the head of the pancreas,
and agenesis of the pancreatic neck, trunk and tail

Microarray analysis demonstrated a prominent, heterozygous deletion of a 1.63 Mb-spanning DNA sequence at chromosomal location 17q12,
which included the HNF1B gene

A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome

Yaşar Köstek H et al.
Page: 205-210

Official Journal of
Turkish Society for Pediatric
Endocrinology and Diabetes
 Editor in Chief
Feyza Darendeliler
İstanbul University İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
feyzad@istanbul.edu.tr orcid.org/0000-0003-4786-0780

Associate Editors Editorial Board

Z. Alev Özön Ali Kemal Topaloğlu Margaret C S Boguszewski, MD, PhD
Hacettepe University Faculty of Medicine, Department of Pediatrics, University of Mississippi Medical Center, Department Federal University of Paraná, Department of
Division of Pediatric Endocrinology, Ankara, Turkey of Pediatrics, Division of Pediatric Endocrinology, Pediatrics, Curitiba, Brazil
ozonalev@gmail.com Jackson, Mississippi, USA
Merih Berberoğlu
orcid.org/0000-0002-2390-5123 Aysun Bideci Ankara University Faculty of Medicine, Department of
Gazi University Faculty of Medicine,Department of Pediatric Endocrinology, Ankara, Turkey
Abdullah Bereket Pediatric Endocrinology, Ankara, Turkey
Neslihan Güngör
Marmara University Faculty of Medicine, Department of Pediatric Ayça Aykut Louisiana State University Health Sciences Center-
Endocrinology, İstanbul, Turkey Ege University Faculty of Medicine, Department of Shreveport, Department of Pediatric Endocrinology,
abdullahbereket@gmail.com Medical Genetics, İzmir, Turkey Louisiana, USA
orcid.org/0000-0002-6584-9043
Banerjee Indi Nurgün Kandemir
Damla Gökşen Manchester University NHS Foundation Trust, Emeritus Professor of Pediatrics, Hacettepe University
Ege University Faculty of Medicine, Department of Pediatric Manchester, United Kingdom Faculty of Medicine, Department of Pediatric
Endocrinology, İzmir, Turkey Endocrinology, Ankara, Turkey
Belma Haliloğlu
damla.goksen@ege.edu.tr Marmara University Faculty of Medicine, Department Ömer Tarım
orcid.org/0000-0001-6108-0591 of Pediatric Endocrinology, İstanbul, Turkey Bursa Uludağ University Faculty of Medicine,
Department of Pediatric Endocrinology, Bursa, Turkey
Korcan Demir Gül Yeşiltepe Mutlu
Dokuz Eylül University Faculty of Medicine, Department of Pediatric Koç University Faculty of Medicine, Department of Rasha Tarif
Endocrinology, İzmir, Turkey Pediatric Endocrinology, İstanbul, Turkey Ain Shams University Faculty of Medicine,
korcandemir@gmail.com Department of Pediatrics, Cairo, Egypt
Hakan Döneray
orcid.org/0000-0002-8334-2422 Atatürk University Faculty of Medicine, Department of Violeta Iotova
Pediatric Endocrinology, Erzurum, Turkey Endo-ERN Work Package ‘Education & Training’
Samim Özen
Paediatric Chair, Department of Pediatrics, Medical
Ege University Faculty of Medicine, Department of Pediatric Hüseyin Onay
University of Varna, Varna, Bulgaria
Endocrinology, İzmir, Turkey Ege University Faculty of Medicine, Department of
samim.ozen@ege.edu.tr Medical Genetics, İzmir, Turkey Zehra Yavaş Abalı
orcid.org/0000-0001-7037-2713 Marmara University Faculty of Medicine, Department
Hussain Alsaffar
of Pediatric Endocrinology, İstanbul, Turkey
Sultan Qaboos University, Department of Child
Serap Turan
Health, Oman Zdeněk Šumník
Marmara University Faculty of Medicine, Department of Pediatric Charles University and University Hospital Motol,
Endocrinology, İstanbul, Turkey Justin Davies
Department of Pediatrics, 2nd Faculty of Medicine,
University Hospital Southampton NHS Foundation
serap.turan@marmara.edu.tr Prag, Czech Republic
Trust, Southampton Children’s Hospital, Paediatric
orcid.org/0000-0002-5172-5402
Endocrinology, Southampton; University of Güven Özkaya (Statistical Consultant)
Southampton, Faculty of Medicine, Hampshire, Bursa Uludağ University Faculty of Medicine,
England Department of Biostatistics, Bursa, Turkey
English Language Editor and
Assistant to the Editor in Chief Khalid Hussain
Great Ormond Street Hospital for Children,
Jeremy Jones, Kocaeli, Turkey Department of Pediatric Endocrinology, London,
United Kingdom
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AIMS AND SCOPE
The Journal of Clinical Research in Pediatric Endocrinology (JCRPE) publishes original research articles, reviews, short communications, letters, case reports and other special
features related to the field of pediatric endocrinology. JCRPE is published in English by the Turkish Society for Pediatric Endocrinology and Diabetes quarterly (March, June,
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AIMS AND SCOPE

GENERAL INFORMATION Case Reports are descriptions of a case or small number of cases revealing novel
Manuscripts must be written in English and must meet the requirements of the and important insights into a condition’s pathogenesis, presentation, and/or
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deadline will be treated as new submissions. The journal is in compliance with the criticisms, and will be published only if they meet the Journal’s usual editorial
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by the International Committee of Medical Journal Editors (NEJM 1997; 336:309- include no more than six figures and tables and 120 references.
315, updated 2001). Upon submission of the manuscript, authors are to indicate
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when appropriate: Consort statement for randomized controlled trials (Moher D, in the Journal. Letters should be short commentaries related to specific points of
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recommendations for improving the quality of reports of parallel group randomized than 500 words with no more than five complete references, and may not include
any figures or tables.
trials. JAMA 2001 ; 285 : 1987 - 91), the QUOROM statement for meta-analysis and
systemic reviews of randomized controlled trials (Moher D, Cook DJ, Eastwood S, Note on Prior Publication
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SC, et al. Meta-analysis of observational studies in epidemiology: a proposal for
reporting Meta-analysis of observational studies in Epidemiology (MOOSE) group. MANUSCRIPT SUBMISSION PROCEDURES
JAMA 2000; 283: 2008 – 12). Keywords are included according to MeSH (Medical JCRPE only accepts electronic manuscript submission at the web site www.jcrpe.org
Subject Headings) National Library of Medicine. After logging on to the website www.jcrpe.org click ‘Submit an Article’ icon.
Once the manuscript is accepted to be published in The Journal of Clinical Research All corresponding authors should be provided a password and a username
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The Journal requires that all submissions be submitted according to these guidelines:
Clinical Reviews address important topics in the field of pediatric endocrinology.
Authors considering the submission of uninvited reviews should contact the editors • Text should be double spaced with 2.5 cm margins on both sides using
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four figures and tables and 120 references.

INSTRUCTIONS TO AUTHORS
Title Page You can register for clinical trials by visiting the following link:
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• Authors’ names, and institutions, and e-mail addresses
• Corresponding author’s e-mail and post address, telephone and fax numbers Graphical Abstract
• At least five and maximum eight keywords. Do not use abbreviations in the The Journal of Clinical Research in Pediatric Endocrinology aims to enhance the
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What is already known on this topic?

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Introduction Experimental Animals

The article should begin with a brief introduction stating why the study was
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Materials and Methods
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Clinical Trials Registration
section.
All clinical trials must be registered in a public trials registry acceptable to the
The raw results of weight, length/height, body mass index, and blood pressure
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INSTRUCTIONS TO AUTHORS
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Sample References Archiving
Papers Published in Periodical Journals: Gungor N, Saad R, Janosky J, Arslanian S. The editorial office will retain all manuscripts and related documentation
Validation of surrogate estimates of insulin sensitivity and insulin secretion in (correspondence, reviews, etc.) for 12 months following the date of publication or
children and adolescents. J Pediatr 2004;144:47-55. rejection.

Submission Preparation Checklist

Papers Only Published with DOI Numbers: Knops NB, Sneeuw KC, Brand R, Hile ET, de
As part of the submission process, authors are required to check off their submission’s
Ouden AL, Wit JM, Verloove-Vanhorick SP. Catch-up growth up to ten years of age in
compliance with all of the following items, and submissions may be returned to
children born very preterm or with very low birth weight. BMC Pediatrics 2005 doi:
authors that do not adhere to these guidelines.
10.1186/1471-2431-5-26.
Book Chapters: Darendeliler F. Growth Hormone Treatment in Rare Disorders: 1. The submission has not been previously published, nor is it before another
The KIGS Experience. In: Ranke MB, Price DA, Reiter EO (eds). Growth Hormone journal for consideration (or an explanation has been provided in Comments
Therapy in Pediatrics: 20 Years of KIGS. Basel, Karger, 2007;213-239. to the Editor).
2. The submission file is in Microsoft Word, RTF, or WordPerfect document file
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Figures Legends
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Summary.

INSTRUCTIONS TO AUTHORS
Privacy Statement Do the authors state the study question in the introduction?
The names and email addresses entered in this journal site will be used exclusively Are the methods clear?
for the stated purposes of this journal and will not be made available for any other Are ethical guidelines met?
purpose or to any other party. Are statistical analyses appropriate?
Are the results presented clearly?
Peer Review Process Does the discussion cover all of the findings?
1. The manuscript is assigned to an editor, who reviews the manuscript and Are the references appropriate for the manuscript?
makes an initial decision based on manuscript quality and editorial
priorities. 4. Remarks to the editor
2. For those manuscripts sent for external peer review, the editor assigns Accepted in its present form
reviewers to the manuscript. Accepted after modest revisions
Reconsidered for acceptance after major changes
3. The reviewers review the manuscript.
Rejected
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What would be your recommendations to the author?
5. The decision letter is sent to the author.
Conflict of interest statement for the reviewer (Please state if a conflict of interest
The Reviewer is Asked to Focus on the Following Issues: is present)
1. General recommendation about the manuscript For further instructions about how to review, see Reviewing Manuscripts for Archives
How original is the manuscript? of Pediatrics & Adolescent Medicine by Peter Cummings, MD, MPH; Frederick P.
Is it well presented? Rivara, MD, MPH in Arch Pediatr Adolesc Med. 2002;156:11-13.
How is the length of the manuscript?

2. Publication timing, quality, and priority GUIDELINES FOR MANUSCRIPT PREPARATION

How important is the manuscript in this field? The authors can also benefit from the following guidelines in the process of
Does it present original data? preparing the article:
Does it carry priority in publishing?

3. Specific questions regarding the quality of the manuscript Clinical Trials

Does the title describe the study accurately? Observational Studies
Is the abstract informative and clear? Systematic Review
Diagnostic and Prognostic Studies

INSTRUCTIONS TO AUTHORS
 Review
123 Extensive Literature Review of 46,XX Newborns with Congenital Adrenal Hyperplasia and Severe Genital Masculinization:
Should They Be Assigned and Reared Male?
Tom Mazur, Jennifer O’Donnell, Peter A. Lee

Original Articles
137 Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-
negative Type 1 Diabetes Mellitus
Enver Şimşek, Oğuz Çilingir, Tülay Şimşek, Sinem Kocagil, Ebru Erzurumluoğlu Gökalp, Meliha Demiral, Çiğdem Binay

146 Serum Ghrelin and Glucagon-like Peptide 1 Levels in Children with Prader-Willi and Bardet-Biedl Syndromes
Doğa Türkkahraman, Suat Tekin, Merve Güllü, Güzin Aykal

151 Associations of Adipocyte-derived Versican and Macrophage-derived Biglycan with Body Adipose Tissue and Hepatosteatosis in
Obese Children
Reyhan Deveci Sevim, Mustafa Gök, Özge Çevik, Ömer Erdoğan, Sebla Güneş, Tolga Ünüvar, Ahmet Anık

160 Evaluating Postoperative Outcomes and Investigating the Usefulness of EU-TIRADS Scoring in Managing Pediatric Thyroid
Nodules Bethesda 3 and 4
Aylin Kılınç Uğurlu, Abdurrahman Bitkay, Fatih Gürbüz, Esra Karakuş, Gülşah Bayram Ilıkan, Çağrı Damar, Seda Şahin, Merve Meryem Kıran,
Nedim Gülaldı, Müjdem Nur Azılı, Emrah Şenel, İnci Ergürhan İlhan, Mehmet Boyraz

168 Microcephaly in Infants: A Retrospective Cohort Study from Turkey

Gonca Keskindemirci, Öykü Özbörü Aşkan, Burak Selver, Alev Bakır Kayı, Gülbin Gökçay

177 Assessment of Executive Function Skills in Children with Isolated Growth Hormone Deficiency: A Cross-sectional Study
Gülsüm Yitik Tonkaz, Atilla Çayır

185 Salivary Sex Steroid Levels in Infants and the Relation with Infantile Colic
Fulya Mete Kalaycı, Özlem Gürsoy Doruk, İbrahim Mert Erbaş, Osman Tolga İnce, Makbule Neslişah Tan, Adem Aydın, Ayhan Abacı,
Ece Böber, Korcan Demir

192 Non-thyroidal Illness in Children with Congestive Heart Failure

Biswajit Sahoo, Aashima Dabas, Binita Goswami, Anurag Agarwal, Sumod Kurian

Case Reports
200 Juvenile Granulosa Cell Tumor Mimicking HAIR-AN in a 4-year-old: A Case Report
Rachel Choe Kim, Ilya Goldberg, Trevor Van Brunt, Hamama Tul-Bushra, Rebecca Batiste, Andrew H. Lane, Helen Hsieh

205 A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome
Hümeyra Yaşar Köstek, Fatma Özgüç Çömlek, Hakan Gürkan, Emine Neşe Özkayın, Filiz Tütüncüler Kökenli

211 Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote,
Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J. Kaiser Feliciano J. Ramos, Juan Pié Juste, Gloria Bueno-Lozano

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218 Stress Induced Hyperglycemia in Early Childhood as a Clue for the Diagnosis of NEUROD1-MODY
Nur Berna Çelik, Naz Güleray Lafcı, Şenay Savaş-Erdeve, Semra Çetinkaya

224 Successful Management of Severe Hypercalcemia with Zoledronic Acid: A Report of Two Pediatric Cases
Fatih Kilci, Jeremy Huw Jones, Filiz Mine Çizmecioğlu-Jones

229 Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene
Basma Haris, Idris Mohammed, Umm-Kulthum Ismail Umlai, Diksha Shirodkar, Khalid Hussain

235 Short Adult Height After Rapid-tempo Puberty: When is it too Late to Treat?
Peter A. Lee

Letters to the Editor

243 Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: Correspondence
Hinpetch Daungsupawong, Viroj Wiwanitkit

244 In response to: “Letter to: Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: Correspondence”
Ramasamy Thirunavukkarasu, Ayyappan Chitra, Arthur Asirvatham, Mariakuttikan Jayalakshmi

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