ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 2 Year: 2024
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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.Adherence to Growth Hormone Treatment in Children During COVID-19 Pandemic
Erdal Eren, Semra Çetinkaya, Yasemin Denkboy Ongen, Ummahan Tercan, Şükran Darcan, Hande Turan, Murat Aydın, Fatma Yavuzyılmaz, Fatih Kilci, Beray Selver Eklioğlu, Nihal Hatipoğlu, Kubra Yuksek Acinikli, Zerrin Orbak, Emine Çamtosun, Şenay Savaş Erdeve, Emrullah Arslan, Oya Ercan, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2024.2023-10-8  Page 0

3.Assessment of Thyroid Gland in Children with Point-of-Care Ultrasound (POCUS): Radiological Performance and Feasibility of Handheld Ultrasound in Clinical Practice
Ahmet Anık, Mustafa Gök, Göksel Tuzcu
doi: 10.4274/jcrpe.galenos.2024.2023-8-17  Page 0

4.Clinical and Laboratory Characteristics of MODY (Maturity Onset Diabetes of Young) Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship
Elif Özsu, Semra Çetinkaya, Semih Bolu, Nihal Hatipoğlu, Şenay Savaş Erdeve, Olcay Evliyaoğlu, Firdevs Baş, Atilla Çayır, Ismail Dündar, Emine Demet Akbaş, Seyid Ahmet Uçaktürk, Merih Berberoğlu, Zeynep Şıklar, Şervan Özalkak, Nursel Muratoğlu Şahin, Melikşah Keskin, Ülkü Gül Şiraz, Hande Turan, Ayşe Pınar Öztürk, Eda Mengen, Elif Sağsak, Fatma Dursun, Nesibe Akyürek, Sevinç Odabaşı Guneş, Zehra Aycan
doi: 10.4274/jcrpe.galenos.2024.2023-10-16  Page 0

5.Comprehensive Insights into Pediatric Craniopharyngioma: Endocrine and Metabolic Profiles, Treatment Challenges, and Long-term Outcomes with a Multicenter Approach
Zeynep Şıklar, Elif Özsu, Sirmen Kızılcan Çetin, Samim Özen, Filiz Çizmecioğlu-Jones, Hanife Gül Balkı, Zehra Aycan, Damla Goksen, Fatih Kilci, Sema Nilay Abseyi, Ummahan Tercan, Gözde Gürpınar, Şükran Poyrazoğlu, Feyza Darendeliler, Korcan Demir, Özge Besci, İlker Tolga Özgen, Semra Bahar Akın, Zümrüt Kocabey Sütçü, Emel Hatun Aykaç Kaplan, Emine Çamtosun, İsmail Dundar, Elif Sağsak, Hüseyin Anıl Korkmaz, et al
doi: 10.4274/jcrpe.galenos.2024.2024-1-3  Page 0

6.Differentiated Thyroid Cancer in Children and Adolescents: 12-year Experience in a Single Center
Francisca Marques Puga, Laura Correia, Inês Vieira, Joana Serra Caetano, Rita Cardoso, Isabel Dinis, Alice Mirante
doi: 10.4274/jcrpe.galenos.2024.2024-1-25  Page 0

7.Efficacy of Glucagon-like Peptide-1 Receptor Agonists in Overweight/Obese and/or T2DM Adolescents: A Meta-analysis Based on Randomized Controlled Trials
Min Dai, Senjie Dai, Lihu Gu, Zhiyi Xiang, Anyi Xu, Siyu Lu, Yang Yang, Cong Zhou
doi: 10.4274/jcrpe.galenos.2024.2024-1-5  Page 0

8.Electrocardiographic Findings in Children Treated with Leuprolide Acetate for Precocious Puberty: Does it Cause Prolonged QT?
Esma Ebru Altun, Ayşe Yaşar, Fatma Dursun, Gülcan Seymen, Heves Kırmızıbekmez
doi: 10.4274/jcrpe.galenos.2024.2024-2-8  Page 0

9.Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in North Indian Population
Ravi Shankar Patel, Roshan Daniel, Chitra Bhardwaj, Anu Kumari, Pratibha Bawa, Ankita Tyagi, Devi Dayal, Anupriya Kaur, Inusha Panigrahi, Harvinder Kaur, Priyanka Srivastava
doi: 10.4274/jcrpe.galenos.2024.2023-11-7  Page 0

10.Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation
Samim Özen, Damla Gökşen, Ferda Evin, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Aysun Ata, Tahir Atik, Füsun Düzcan, Ferda Özkınay, Şükran Darcan, Özgür Çoğulu
doi: 10.4274/jcrpe.galenos.2024.2022-12-8  Page 0

11.Predictors and Trends of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes Mellitus in Malaysian Children
Meenal Mavinkurve, Nurul Hanis Ramzi, Muhammad Yazid Bin Jalaludin, Nurshadia Samingan, Azriyanti Anuar Zaini
doi: 10.4274/jcrpe.galenos.2024.2024-1-8  Page 0

12.Reversibility of Hyperglycemic States in Children with Obesity-Diagnostic Pitfalls in the Assessment of Glucose Metabolism in Children and Adolescents with Obesity
Anna Iwanskka, Malgorzata Wójcik, Ewa Szczudlik, Anna Stepniewska, Jerzy B. Starzyk
doi: 10.4274/jcrpe.galenos.2024.2023-8-9  Page 0

13.The Relationship Between Sleep Quality, Sleep Duration, Social Jet Lag and Obesity in Adolescents
Funda Yıldız, Melike Zeynep Tuğrul Aksakal, Raif Yıldız, Firdevs Baş
doi: 10.4274/jcrpe.galenos.2024.2024-2-2  Page 0

14.Triglyceride Glucose Index is Associated with Ultrasonographic Fatty Liver Indicator in Children and Adolescents with Non-alcoholic Fatty Liver Disease
Bitgyeol Kim, Hye Young Jin, Jong Seo Yoon, Eu Seon Noh, Il Tae Hwang
doi: 10.4274/jcrpe.galenos.2024.2024-2-5  Page 0

15.Vitamin D Status in an Italian Pediatric Cohort: Is There a Role for Tobacco Smoking Exposure?
Maria Grazia Clemente, Dario Argiolas, Stefania Bassu, Angela Bitti, Cristian Locci, Mauro Argiolas, Lino Argiolas, Laura Saderi, Mariangela V. Puci, Giovanni Sotgiu, Mary E. Blue, Roberto Antonucci
doi: 10.4274/jcrpe.galenos.2024.2023-11-16  Page 0

REVIEW
16.Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex Development
Deniz Özalp Kızılay, Samim Özen
doi: 10.4274/jcrpe.galenos.2024.2024-3-3  Page 0

17.Current Management of Type 1 Diabetes in Children: Guideline-based Expert Opinions and Recommendations
Sukru Hatun, Tugba Gokce, Ecem Can, Elif Eviz, Kagan Ege Karakus, Carmel Smart, Ragnar Hanas, Gul Yesiltepe Mutlu
doi: 10.4274/jcrpe.galenos.2024.2024-1-15  Page 0

18.Delayed Puberty and Management of Treatment
Ayhan Abacı
doi: 10.4274/jcrpe.galenos.2024.2024-2-7  Page 0

19.Gender Difference and Changes in the Prevalence of Obesity Over Time in Children Under 12 Years Old: A Meta-analysis
Xuefeng Chen, Wei Wu, Jinna Yuan, Xuelian Zhou, Ke Huang, Yangli Dai, Guanping Dong, Junfen Fu
doi: 10.4274/jcrpe.galenos.2024.2023-11-11  Page 0

20.Long-acting Growth Hormone Therapy, Rational and Future Aspects
Semra Çetinkaya, Erdal Eren, Furkan Erdoğan, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2024.2023-11-8  Page 0

CASE REPORT
21.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

22.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

23.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

24.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

25.A 15-year-old Girl with a Lateral Neck Mass Turning Out to Be Papillary Thyroid Carcinoma-Lateral Ectopic Papillary Thyroid Carcinoma or Lymph Node Metastasis?
Marijke E.B. Kremer, A. S. Paul van Trotsenburg, Anton F. Engelsman, Esther Edelenbos, Arantza Farina-Sarasqueta, Joost van Schuppen, José C.C. Koppes, Joep P.M Derikx, Christiaan F. Mooij
doi: 10.4274/jcrpe.galenos.2023.2023-4-6  Page 0

26.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

27.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

28.A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review
Sema Nilay ABSEYİ, Zeynep ŞIKLAR, Elif ÖZSU, Ayten KAYI CANGIR, Emel CABİ ÜNAL, Nurdan TAÇYILDIZ, Zehra AYCAN, Merih BERBEROĞLU
doi: 10.4274/jcrpe.galenos.2023.2023-7-6  Page 0

29.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

30.A Rare Case of Monogenic Obesity due to a Novel Variant in the ADCY3 Gene: Challenges in Follow-up and Treatment
Bahar ÖZCABI, Asude DURMAZ, Ayça AYKUT, Hasan ÖNAL, Samim ÖZEN
doi: 10.4274/jcrpe.galenos.2023.2023-7-2  Page 0

31.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

32.Atypical Presentation and Course of ACTH-independent Cushing’s Syndrome in Two Families
Kübra Yüksek Acinikli, Sezer Acar, Ahu Paketçi, Özgür Kırbıyık, Mert Erbaş, Özge Besci, Gözde Akın Kağızmanlı, Deniz Kızmazoğlu, Oktay Ulusoy, Erdener Özer, Kutsal Yörükoğlu, Ayhan Abacı, Handan Güleryüz, Ece Böber, Korcan Demir
doi: 10.4274/jcrpe.galenos.2023.2023-9-15  Page 0

33.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

34.Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/CYP11B1 Gene
Wenjuan Cai, Dan Yu, Jian Gao, Qian Deng, Huihui Lin, Yuqing Chen
doi: 10.4274/jcrpe.galenos.2023.2023-9-13  Page 0

35.Continuous Glucose Monitoring Systems and the Efficacy of Acarbose Treatment in Cystic Fibrosis-related Dysglycemia
Emrullah Arslan, Deniz Ozalp Kızılay, Yasemin Atik Altinok, Bahar Girgin Dundar, Arzu Jalilova, Gunay Demir, Samim Ozen, Sukran Darcan, Ruhsar Damla Goksen
doi: 10.4274/jcrpe.galenos.2023.2023-2-12  Page 0

36.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

37.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

38.Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1): A Case Report and Review of the Literature
Enver Şimşek, Tulay Simsek, Oguz Cilingir
doi: 10.4274/jcrpe.galenos.2023.2023-9-17  Page 0

39.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

40.Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment
Sirmen Kizilcan Cetin, Zeynep Siklar, Elif Ozsu, Aysegul Ceran, Koray Ceyhan, Zehra Aycan, Ayca Kırmızı, Handan Dincaslan, Emel Unal, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2023.2023-7-13  Page 0

41.Insulinoma Associated with MEN1 Syndrome: A Case of Persistent Hypoglycemia in School-aged Child
Rodrigo Lemus-Zepeda, Aura María Salazar-Solarte, Diana Marcela Vasquez-Forero, Liliana Mejía-Zapata, Mario Jr. Angulo-Mosquera
doi: 10.4274/jcrpe.galenos.2023.2023-3-10  Page 0

42.Lymphocytic Infundibuloneurohypophysitis Diagnosis Owing to Positive Anti-rabphilin-3A Antibody Test Result in an 8-year-old Boy with Early-onset Central Diabetes İnsipidus
Yukino Shoji, Yuki Naruse, Naoko Iwata, Haruki Fujisawa, Atsushi Suzuki, Yoshihisa Sugimura, Masato Mori, Ryugo Hiramoto
doi: 10.4274/jcrpe.galenos.2023.2023-5-7  Page 0

43.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

44.Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria
Luciana Pinto Valadares, Daniel Rocha de Carvalho
doi: 10.4274/jcrpe.galenos.2023.2023-5-2  Page 0

45.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

46.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

47.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

48.Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes
Juan D. González-Rodríguez, Esther Q. Inglés-Torres, José E. Cabrera-Sevilla, Salvador Ibáñez-Micó, Francisca Bermejo-Costa, Ascensión Vera-Carbonell, Juan A. Bafalliu-Vidal, Pedro Cortés-Mora, Ana Lorente-Nicolás, José María Donate-Legaz
doi: 10.4274/jcrpe.galenos.2023.2023-3-11  Page 0

49.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

50.Worsening of Congenital Hypothyroidism After Start of Carob-bean Gum Thickened Formula: Is There a Link? A Case Report
Claudia Signorino, Giovanna Municchi, Marta Ferrari, Stefano Stagi
doi: 10.4274/jcrpe.galenos.2023.2023-9-12  Page 0

51.Acute Kidney Injury After Thyroid Hormone Withdrawal in an Adolescent with Papillary Thyroid Carcinoma
Yavuz Özer, Rüveyda Gülmez, Hande Turan, Gürkan Tarçın, Dilek Bingöl Aydın, Olcay Evliyaoğlu, Oya Ercan
doi: 10.4274/jcrpe.galenos.2024.2023-11-10  Page 0

52.Adult Outcome After Partial Androgen Insensitivity Syndrome: Diagnosed and Assigned Female in Infancy
Peter A Lee
doi: 10.4274/jcrpe.galenos.2024.2023-12-17  Page 0

53.Clinical and Genetic Characteristics and Outcome in Patients with Neonatal Diabetes Mellitus from a Low Middle-Income Country
I. M. Kumarasiri, T. J. Hoole, M. W. A. Nimanthi, I. Jayasundara, R. Balasubramaniam, N. Atapattu
doi: 10.4274/jcrpe.galenos.2024.2024-2-17  Page 0

54.Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome
Sirmen Kızılcan Çetin, Elif Özsu, Zeynep Şıklar, Hasan Fatih Çakmaklı, Gizem Şenyazar, Zehra Aycan, Serdar Ceylaner, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2024.2023-12-4  Page 0

55.Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report
Jooyoung Jeon, Eu-seon Noh, Il Tae Hwang
doi: 10.4274/jcrpe.galenos.2024.2023-12-12  Page 0

56.Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion
Elena Lundberg, Magnus Burstedt, Irina Golovleva
doi: 10.4274/jcrpe.galenos.2024.2023-5-15  Page 0

57.Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism
Yee Lin Lee, Tzer Hwu Ting, Chong Teik Lim, Karuppiah Thilakavathy, Nurul Huda Musa, King Hwa Ling
doi: 10.4274/jcrpe.galenos.2024.2023-12-1  Page 0

58.Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome and the c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population
Yurong Piao, Rongmin Li, Yingjie Wang, Congli Chen, Yanmei Sang
doi: 10.4274/jcrpe.galenos.2024.2023-11-6  Page 0

59.Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants
Fatma Güliz Atmaca, Özlem Akgün Doğan, Büşra Kutlubay, Heves Kırmızıbekmez
doi: 10.4274/jcrpe.galenos.2023.2023-7-1  Page 0

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