ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 15 Issue: 2 Year: 2023
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Ahead of Print - JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY

Ahead of Print

ORIGINAL ARTICLE
1.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
doi: 10.4274/jcrpe.galenos.2019.2019.0024  Page 0

2.Adverse Events of COVID-19 Vaccines in Adolescents with Endocrinological Disorders: A Cross-Sectional Study
İbrahim Mert Erbaş, İrem Ceren Erbaş, Gözde Akın Kağızmanlı, Kübra Yüksek Acinikli, Özge Besci, Korcan Demir, Ece Böber, Nurşen Belet, Ayhan Abacı
doi: 10.4274/jcrpe.galenos.2023.2022-9-1  Page 0

3.An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience
Yasemin Denkboy Ongen, Sebnem Ozemri Sag, Sehime Gulsun Temel, Erdal Eren
doi: 10.4274/jcrpe.galenos.2023.2022-11-3  Page 0

4.Continuous Glucose Monitoring in Children and Adolescents with Congenital Adrenal Hyperplasia
Ilja Dubinski, Susanne Bechtold-Dalla Pozza, Belana Debor, Hannah Franziska Nowotny, Nicole Reisch, Lea Tschaidse, Heinrich Schmidt
doi: 10.4274/jcrpe.galenos.2023.2023-3-5  Page 0

5.Differentiated Thyroid Cancer in Adolescents: Single Center Experience and Considerations for Surgical Management and Radioiodine Treatment
Costanza Chiapponi, Milan Janis Michael Hartmann, Boris Decarolis, Thorsten Simon, Christiane Josephine Bruns, Michael Faust, Anne Maria Schultheis, Matthias Schmidt, Hakan Alakus
doi: 10.4274/jcrpe.galenos.2023.2023-1-16  Page 0

6.Effects of Blue Light on Puberty and Ovary in Female Rats
Aylin Kılınç Uğurlu, Aysun Bideci, Ayşe Murşide Demirel, Gülnur Take Kaplanoğlu, Duygu Dayanır, Özlem Gülbahar, Tuba Saadet Deveci Bulu, Esra Döğer, M. Orhun Çamurdan
doi: 10.4274/jcrpe.galenos.2023.2022-12-1  Page 0

7.Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey
Esin Karakilic Ozturan, Ayse Pinar Ozturk, Firdevs Bas, Ayse Burcu Erdogdu, Seven Kaptan, Asli Derya Kardelen Al, Sukran Poyrazoglu, Melek Yıldız, Neşe Direk, Sahika Yuksel, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2023.2023-1-13  Page 0

8.Evaluation of Abnormal Uterine Bleeding in Adolescents: Single Center Experience
Sirmen Kızılcan Çetin, Zehra Aycan, Elif Özsu, Zeynep Şıklar, Ayşegül Ceran, Seda Erişen Karaca, Gizem Şenyazar, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2023.2022-10-7  Page 0

9.Growth Hormone Dosing Estimations Based on Body Weight Versus Body Surface Area
Özge Besci, Reyhan Deveci Sevim, Kübra Yüksek Acinikli, Gözde Akın Kağızmanlı, Sezen Ersoy, Korcan Demir, Tolga Ünüvar, Ece Böber, Ahmet Anık, Ayhan Abacı
doi: 10.4274/jcrpe.galenos.2023.2022-12-18  Page 0

10.Peak Serum Cortisol Cutoffs to Diagnose Adrenal Insufficiency Across Different Cortisol Assays in Children
Samuel Cortez, Ana Maria Arbeláez, Michael Wallendorf, Kyle McNerney
doi: 10.4274/jcrpe.galenos.2023.2023-2-3  Page 0

11.Relative Frequency of Islet Autoimmunity in Children and Adolescents with Autoimmune Thyroid Disease
Natasa Rojnic Putarek, Nevena Krnic, Jadranka Knezevic-cuca, Vesna Kusec, Maja Baretic, Miroslav Dumic
doi: 10.4274/jcrpe.galenos.2023.2023-10-18  Page 0

12.Socioeconomic Inequalities, Adolescence, Sex and Disease Duration as Associates of Physical Activity Avoidance Among Children with Type 1 Diabetes
Büşra Donat Ergin, Isil Ergin, Damla Gökşen
doi: 10.4274/jcrpe.galenos.2023.2022-9-13  Page 0

13.The Effect of SARS-CoV-2 Outbreak on Diabetic Ketoacidosis Presentation in Children with New Onset Type 1 Diabetes Mellitus
Arzu Jalilova, Aysun Ata,, Günay Demir, Hafize Işıklar, Yasemin Atik Altınok, Samim Özen, Şükran Darcan, Damla Gökşen
doi: 10.4274/jcrpe.galenos.2023.2022-11-4  Page 0

14.The Incidence Trend of Type 1 Diabetes Among Children and Adolescents 0-14 Years of Age in the West, South, and Tripoli Regions of Libya (2009-2018)
Rowida M M Khashebi, Christopher C Patterson, Mostafa S Shebani
doi: 10.4274/jcrpe.galenos.2023.2023-1-17  Page 0

CASE REPORT
15.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
doi: 10.4274/jcrpe.galenos.2022.2022-3-2  Page 0

16.A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey
Elif Söbü, Gül Demet Kaya Özçora, Elif Yılmaz Güleç, Bahtiyar Şahinoğlu, Feride Tahmiscioğlu Bucak
doi: 10.4274/jcrpe.galenos.2022.2022-8-12  Page 0

17.A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report
Si Qin, Yindi Zhang, Fadong Yu, Yinxing Ni, Jian Zhong
doi: 10.4274/jcrpe.galenos.2022.2021-12-24  Page 0

18.A Novel KISS1R Loss-of-Function Variant in a Chinese Child with Congenital Hypogonadotropic Hypogonadism
Peng Zhou, Jin Wu
doi: 10.4274/jcrpe.galenos.2022.2022-3-18  Page 0

19.A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care
Aslı Derya Kardelen, Esin Karakılıç Özturan, Şükran Poyrazoğlu, Firdevs Baş, Serdar Ceylaner, Sjoerd D Joustra, Jan M Wit, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2022.2021-12-3  Page 0

20.Congenital Hyperinsulinism and Maple Syrup Urine Disease A Challenging Combination
Azza Al Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al- Hashmi, Fathiya Al Murshedi
doi: 10.4274/jcrpe.galenos.2021.2021.0173  Page 0

21.Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report
Takahide Kokumai, Shigeru Suzuki, Noriko Nishikawa, Hinako Yamamura, Tokuo Mukai, Yusuke Tanahashi, Satoru Takahashi
doi: 10.4274/jcrpe.galenos.2022.2022-4-11  Page 0

22.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, Gloria Bueno-lozano
doi: 10.4274/jcrpe.galenos.2022.2022-4-14  Page 0

23.Gastroparesis in Adolescent Patient with Type 1 Diabetes: Severe Presentation of a Rare Pediatric Complication
Fortunato Lombardo, Bruno Bombaci, Stefano Costa, Mariella Valenzise, Nino Giannitto, Davide Cardile, Sergio Baldari, Giuseppina Salzano, Stefano Passanisi
doi: 10.4274/jcrpe.galenos.2022.2022-5-20  Page 0

24.Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus
Burçe Orman, Semra Çetinkaya, Nergiz Öner, Meltem Akçaboy, Ali Fettah, Naz Güleray Lafcı, Şenay Savaş Erdeve
doi: 10.4274/jcrpe.galenos.2021.2021-11-10  Page 0

25.Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency
Mark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, Peter Lauffer, Merijn W. Bijlsma, Hedi L. Claahsen-van Der Grinten, Nicole De Leeuw, Martijn J.J. Finken, Joost Rotteveel, Nitash Zwaveling-soonawala, Max Nieuwdorp, A.S. Paul van Trotsenburg, Christiaan F. Mooij
doi: 10.4274/jcrpe.galenos.2022.2022-3-4  Page 0

26.Juvenile Granulosa Cell Tumor Mimicking HAIR-AN in a 4-Year-Old: A Case Report
Rachel Choe Kim, Iliya Goldberg, Trevor Van Brunt, Hamama Tul-Bushra, Rebecca Batiste, Andrew H. Lane, Helen Hsieh
doi: 10.4274/jcrpe.galenos.2022.2022-4-17  Page 0

27.Long Term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism
Nur Berna Celik, Monique Losekoot, Emregül Isık, E. Nazlı Gonc, Ayfer Alikasifoglu, Nurgün Kandemir, Z. Alev Ozon
doi: 10.4274/jcrpe.galenos.2022.2022-8-1  Page 0

28.Long-term Survival in a Child with Malignant Insulinoma After Liver Transplantation
Elzbieta Moszczynska, Arnika Wydra, Klaudia Zasada, Marta Bazsynka-wilk, Dorota Majak, Anna Sliwinska, Wieslawa Grajkowska
doi: 10.4274/jcrpe.galenos.2022.2022-3-5  Page 0

29.Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene; The First-year Results
Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Özbek
doi: 10.4274/jcrpe.galenos.2022.2022-1-25  Page 0

30.Mitotically Active Follicular Nodule in Early Childhood: A Case Report with A Novel Mutation in the Thyroglobulin Gene
Sirmen Kizilcan Cetin, Zehra Aycan, Zeynep Siklar, Serpil Dizbay Sak, Serdar Ceylaner, Elif Ozsu, Merih Berberoglu
doi: 10.4274/jcrpe.galenos.2022.2022-8-20  Page 0

31.Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation
Emre Sarıkaya, Mustafa Kendirci, Mikail Demir, Munis Dündar
doi: 10.4274/jcrpe.galenos.2022.2021-12-19  Page 0

32.Non-hormonal Clitoromegaly due to Clitoral Priapism Caused by Appendicitis/Appendectomy
Busra Gurpinar Tosun, Ahsen Karagozlu Akgul, Eda Almus, Sadik Abidoglu, Serap Turan, Abdullah Bereket, Tulay Guran
doi: 10.4274/jcrpe.galenos.2021.2021-8-4  Page 0

33.Novel Homozygous Nonsense Mutation in LRP5 Gene in Two Siblings with Osteoporosispseudoglioma Syndrome
Abolfazl Heidari, Ali Homaei, Fatemeh Saffari
doi: 10.4274/jcrpe.galenos.2021.2021.0186  Page 0

34.Painless Footdrop in a Child with Newly Diagnosed Type 1 Diabetes Mellitus: Case Report
Maryam Jafari, Ahmedyar Hasan, Jessie Joseph, Manal Mustafa, Samar AlMuntaser
doi: 10.4274/jcrpe.galenos.2022.2022-6-22  Page 0

35.Stress Induced Hyperglycemia in Early Childhood as a Clue for the Diagnosis of NEUROD1-MODY
Nur Berna Celik, Naz Güleray Lafcı, Senay Savas-Erdeve, Semra Cetinkaya
doi: 10.4274/jcrpe.galenos.2022.2022-6-15  Page 0

36.Successful Management of Severe Hypercalcemia with Zoledronic Acid: A Report of Two Pediatric Cases
Fatih Kilci, Jeremy Huw Jones, Filiz Mine Çizmecioğlu-jones
doi: 10.4274/jcrpe.galenos.2022.2022-9-3  Page 0

37.Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation
Aleksandra Rojek, Beata Wikiera, Anna Noczynska, Marek Niedziela
doi: 10.4274/jcrpe.galenos.2021.2021.0256  Page 0

38.Tumor - Induced Osteomalacia Associated with a Maxillary Tumor in Children: A Case Report and Review of the Literature
Ha Nguyen Thi, Cuong Pham Manh, Linh To Tuan, Lan Anh Le Thi, Nam Nguyen Thanh, Soamarat Vilaiyuk
doi: 10.4274/jcrpe.galenos.2022.2021-8-14  Page 0

39.Unfavorbale Effects of Low-Carbonhydrate Diet In a Pediatric Patient With Type 1 Diabetes Mellitus
Ceren Güleryüz, Ece Eker, Gülin Karacan Küçükali, Merve Şakar, Fatma Nur Genç, Nursel Muratoğlu Şahin, Selin Elmaoğulları, Semra Çetinkaya, Şenay Savaş Erdeve
doi: 10.4274/jcrpe.galenos.2021.2021-10-18  Page 0

40.Vasculitis-like Palpable Purpuric Rush Induced by Decapeptyl in a Pediatric Patient Diagnosed Central Precocious Puberty: A Pediatric Case
Nilufer Galip, Nermin Ankay, Ruveyde Bundak
doi: 10.4274/jcrpe.galenos.2021.2021.0205  Page 0

41.A Boy with 46,XX Karyotype (SRY double-positive) having a Leydig Cell Tumor
Merve Gullu, Sultan AYDIN, Tarkan KALKAN, Tangül PINARCI, Doğa TURKKAHRAMAN
doi: 10.4274/jcrpe.galenos.2023.2022-9-14  Page 0

42.A Boy with Reset Osmostat Who Developed Chronic Hyponatremia due to Hypothalamic Injury Caused by a Giant Arachnoid Cyst
Junko Naganuma, Satomi Koyama, Yoshiyuki Watabe, Shigemi Yoshihara
doi: 10.4274/jcrpe.galenos.2023.2022-7-16  Page 0

43.A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome – a Case Report
N. Yordanova, V. Iotova, D. J. G. Mackay, I. K. Temple, S. Stoyanova, M. Hachmeriyan
doi: 10.4274/jcrpe.galenos.2022.2022-9-19  Page 0

44.A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings
Melek Yildiz, Zerrin Onal, Gozde Yesil, Tugce Goksu Kabil, Guven Toksoy
doi: 10.4274/jcrpe.galenos.2023.2022-10-4  Page 0

45.Clinical and Genetic Analyses of Two Unrelated 46, XX Girls with Combined 17α-Hydroxylase/17,20-lyase Deficiency from China
Yamei Li, Ting Han, Yingxia Wang, Jie Gao, Jianglin Zhang, Yinglan Wu
doi: 10.4274/jcrpe.galenos.2023.2022-8-7  Page 0

46.Diagnostic Pitfalls of a Newborn with Congenital Nephrogenic Diabetes Insipidus
Ömer Güran, Serçin Güven, Heves Kırmızıbekmez, Özlem Akgün Doğan, Leyla Karadeniz Bilgin
doi: 10.4274/jcrpe.galenos.2023.2022-11-22  Page 0

47.Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation
Sarah Wing-yiu POON, Brian Hon-yin CHUNG, Mabel Siu-chun WONG, Anita Man-ching TSAN
doi: 10.4274/jcrpe.galenos.2023.2022-12-10  Page 0

48.Elemental Milk Formula as a Possible Cause of Hypophosphatemic Rickets in Wiedemann-Steiner Syndrome
Fahad Al Juraibah, Maali Melha, Azam Alromaih, Areej Al-sunaid, Hamad Abdullah Alkhalaf
doi: 10.4274/jcrpe.galenos.2022.2022-8-23  Page 0

49.Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl
Merve Yoldas Celik, Ebru Canda, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Ayca Aykut, Asude Durmaz, Ahmet Anik, Sema Kalkan Ucar, Mahmut Coker
doi: 10.4274/jcrpe.galenos.2022.2022-2022-9-12  Page 0

50.Pituitary Stalk Interruption Syndrome – Clinical Presentation and Management of a Potentially Life-threatening Disease in Newborns
Ira Winkler, Elisabeth Steichen, Klaus Kapelari, Peter Wöckinger, Vera Neubauer, Ursula Kiechl-Kohlendorfer, Elke Griesmaier
doi: 10.4274/jcrpe.galenos.2023.2023-1-23  Page 0

51.Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature
Maamoun Adra, Hayato Nakanishi, Eleni Papachristodoulou, Evangelia Karaoli, Petroula Gerasimou, Antri Miltiadous, Katerina Nicolaou, Loizos Loizou, Nicos Skordis
doi: 10.4274/jcrpe.galenos.2023.2023-12-11  Page 0

52.Sepsis-induced Pancytopenia in an Adolescent Girl with Thyroid Storm: A Case Report
Qing Zhou, Li-Yong Zhang, Qing-Xian Fu, Chao-Chun Zou, Hui Liu
doi: 10.4274/jcrpe.galenos.2023.2022-10-3  Page 0

53.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
doi: 10.4274/jcrpe.galenos.2022.2022-5-9  Page 0

54.The First Case of 4H Syndrome with Type 1 Diabetes Mellitus
Gonul Buyukyilmaz, Busra Erozan Cavdarlı, Keziban Toksoy Adiguzel, Mehmet Adiguzel, Cigdem Seher Kasapkara, Fatih Gurbuz, Mehmet Boyraz, Esra Gurkas
doi: 10.4274/jcrpe.galenos.2023.2023-1-15  Page 0

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