| 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
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| 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
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| 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
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| 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, 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
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| 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
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| 6. | 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
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| 7. | 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
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| 8. | 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
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| 9. | 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
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| 10. | 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
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| 11. | 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
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| 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
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| 13. | 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
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| 14. | 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
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| REVIEW |
| 15. | 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
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| 16. | 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
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| 17. | 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
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| CASE REPORT |
| 18. | 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
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| 19. | 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
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| 20. | 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
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| 21. | 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
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| 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
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| 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
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| 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
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| 25. | 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
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| 26. | 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
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| 27. | 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
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| 28. | 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
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| 29. | 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
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| 30. | 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
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| 31. | 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
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| 32. | 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
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| 33. | 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
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| 34. | 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
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| 35. | 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
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| 36. | 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
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| 37. | 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
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| 38. | 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
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| 39. | 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
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| 40. | 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
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| 41. | 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
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| 42. | 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
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| 43. | 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
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| 44. | 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
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| 45. | 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
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| 46. | 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
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| 47. | 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
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| 48. | 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
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| 49. | 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
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| 50. | 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
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| 51. | 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
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| 52. | 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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| 53. | 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
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| 54. | 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
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| 55. | 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
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| 56. | 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
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| 57. | 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
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| 58. | 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
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| 59. | 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
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| 60. | 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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| LETTER TO THE EDITOR |
| 61. | 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
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