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. | 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, Oguz Cilingir, Tulay Simsek, Sinem Kocagil, Ebru Erzurumluoglu Gokalp, Meliha Demiral, Cigdem Binay doi: 10.4274/jcrpe.galenos.2023.2023-5-10 Page 0
|
|
3. | Serum Ghrelin and Glukagon-like Peptid 1 Levels in Children with Prader-Willi and Bardet-Biedl Syndromes Doga Turkkahraman, Suat Tekin, Merve Gullu, Guzin Aykal doi: 10.4274/jcrpe.galenos.2023.2023-7-7 Page 0
|
|
4. | Adherence to Growth Hormone Treatment in Children During COVID-19 Pandemic Erdal Eren, Semra Çetinkaya, Yasemin Denkboy Ongen, Ummahan Tercan, Şükran Darcan, Hande Turan, 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
|
|
5. | Assessment of Executive Function Skills in Children with Isolated Growth Hormone Deficiency: A Cross-sectional Study Gülsüm YİTİK TONKAZ, Atilla ÇAYIR doi: 10.4274/jcrpe.galenos.2024.2023-10-6 Page 0
|
|
6. | Associations of Adipocyte-Derived Versican and Macrophage-Derived Biglycan with Body Adipose Tissue and Hepatosteatosis in Obese Children Reyhan DEVECİ SEVİM, Mustafa GÖK, Özge ÇEVİK, Ömer ERDOĞAN, Sebla GÜNEŞ, Tolga ÜNÜVAR, Ahmet ANIK doi: 10.4274/jcrpe.galenos.2024.2023-9-18 Page 0
|
|
7. | 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 doi: 10.4274/jcrpe.galenos.2024.2023-8-12 Page 0
|
|
8. | Microcephaly in Infants: A Retrospective Cohort Study from Türkiye Gonca Keskindemirci, Öykü Özbörü Aşkan, Burak Selver, Alev Bakır Kayı, Gülbin Gökçay doi: 10.4274/jcrpe.galenos.2024.2023-5-3 Page 0
|
|
9. | Non-thyroidal Illness in Children with Congestive Heart Failure Biswajit Sahoo, Aashima Dabas, Binita Goswami, Anurag Agarwal, Sumod Kurian doi: 10.4274/jcrpe.galenos.2024.2023-12-7 Page 0
|
|
10. | 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
|
|
11. | Salivary Sex Steroid Levels in Infants and Their Relation with Infantile Colic Fulya Mete Kalaycı, Özlem Gürsoy, İbrahim Mert Erbaş, Osman Tolga İnce, Makbule Neslişah Tan, Adem Aydın, Ayhan Abacı, Ece Böber, Korcan Demir doi: 10.4274/jcrpe.galenos.2024.2023-11-2 Page 0
|
|
REVIEW |
12. | Extensive Literature Review of 46, XX Newborns with Congenital Adrenal Hyperplasia (CAH) and Severe Genital Masculinization: Should They be Assigned and Reared Male? Tom Mazur, Jennifer O’donnell, Peter A Lee doi: 10.4274/jcrpe.galenos.2023.2023-10-17 Page 0
|
|
13. | 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
|
|
14. | 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 |
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. | 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
|
|
18. | 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
|
|
19. | 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
|
|
20. | 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
|
|
21. | 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
|
|
22. | 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
|
|
23. | 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
|
|
24. | 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
|
|
25. | 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
|
|
26. | 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
|
|
27. | 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
|
|
28. | 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
|
|
29. | 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
|
|
30. | 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
|
|
31. | 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
|
|
32. | 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
|
|
33. | 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
|
|
34. | 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
|
|
35. | 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
|
|
36. | 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
|
|
37. | 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
|
|
38. | 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
|
|
39. | 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
|
|
40. | 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
|
|
41. | 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
|
|
42. | 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
|
|
43. | 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
|
|
44. | 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
|
|
45. | 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
|
|
46. | 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
|
|
47. | 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
|
|
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. | 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
|
|
54. | 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
|
|
55. | 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
|
|
56. | 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
|
|
LETTER TO THE EDITOR |
57. | Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: Correspondence Hinpetch Daungsupawong, Viroj Wiwanitkit doi: 10.4274/jcrpe.galenos.2023.2023-9-8 Page 0
|
|