ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 14 Issue: 4 Year: 2022
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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.Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated to 46,XY Gonadal Dysgenesis
Khouloud Rjiba, Wafa Slimani, Meriem Gaddas, Ikbel Hadj Hassine, Afef Jelloul, Hela Ben Khelifa, Fethi El Amri, Monia Zaouali, Kenneth Mcelreavey, Ali Saad, Soumaya Mougou-Zerelli
doi: 10.4274/jcrpe.galenos.2022.2022-3-15  Page 0

2.Clinical Utility and Outcome Prediction of Early ZnT8-IgG Testing and Titer in Type 1 Diabetes
Amanda R. Dahl, Sarah Jenkins M, Sean J Pittock, Siobhan Pittock MB
doi: 10.4274/jcrpe.galenos.2022.2022-4-16  Page 0

3.Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature
Alma Kamar Matias, Evgenia Muginshtein-Simkovitch, Gilad Twig, Lilos Pearl, Zvi Laron
doi: 10.4274/jcrpe.galenos.2022.2022-1-12  Page 0

4.Endocrine Abnormalities and Growth Characterization in Colombian Pediatric
Juan Lasprilla-tovar, Nora Alejandra Zuluaga, Carolina Forero, Oscar Correa-Jiménez, Javier Mauricio Sierra
doi: 10.4274/jcrpe.galenos.2022.2022-4-12  Page 0

5.Factors Affecting Thyroid Elastography in Healthy Children and Patients with Hashimoto's Thyroiditis
Serkan Bilge Koca, Turgut Seber
doi: 10.4274/jcrpe.galenos.2022.2022-4-5  Page 0

6.Factors Associated with Low Bone Mineral Density at the Time of Diagnosis in Children with Celiac Disease
Emine Çamtosun, Fatma İlknur Varol, Şükrü Güngör, Mukadder Ayşe Selimoğlu
doi: 10.4274/jcrpe.galenos.2022.2022-5-18  Page 0

7.Frequency, Clinical Characteristics and Predictors of Ketoacidosis at Diagnosis of Type One Diabetes Mellitus in Children and Adolescents from Jordan
Rasha Odeh, Lobna Gharaibeh, Amirah Daher, Jumana Albaramki, Bahaa Ashour, Fatima al Barakat, Dina Dahabreh, Hiba Hadadin, Tala Melhem, Abeer Alassaf
doi: 10.4274/jcrpe.galenos.2022.2022-5-8  Page 0

8.Increased Carotid Intima-media Thickness and Its Association with Carbohydrate Metabolism and Adipocytokines in Children Treated with Recombinant Growth Hormone
Seha Saygili, Mehmet Kocaaga, Gamze Kaya, Mine Sukur, Firdevs Bas, Sukran Poyrazoglu, Ruveyde Bundak, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2022.2022-8-19  Page 0

9.The Importance of Extended High Frequencies in Hearing Evaluation of Pediatric Patients with Type 1 Diabetes
Selis Gulseven Guven, Cigdem Binay
doi: 10.4274/jcrpe.galenos.2022.2022-7-3  Page 0

10.The Relationship between Premature Adrenarche and Platelet Aggregation
Ahmet Bolat, Cengiz ZEYBEK, Orhan GURSEL, Onur Akın, Mehmet Emre TAŞÇILAR
doi: 10.4274/jcrpe.galenos.2022.2022-6-13  Page 0

11.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: jcrpe-2019-0024.R2  Page 0

12.Chronic Disease Management of Children Followed with Type 1 Diabetes Mellitus
Senay Guven Baysal, Nurdan Ciftci, Ismail Dundar, Mehmet Akif Buyukavcı, Fatma Hilal Yagin, Emine Camtosun, Derya Gumuş Dogan, Aysehan Akinci
doi: 10.4274/jcrpe.galenos.2023.2022-8-4  Page 0

13.Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism
Nurdan Çiftci, Ayşehan Akıncı, Ekrem Akbulut, Emine Çamtosun, İsmail Dündar, Mustafa Doğan, Leman Kayaş
doi: 10.4274/jcrpe.galenos.2023.2022-10-14  Page 0

14.Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty
Sumeyye Emel Eren, Enver Simsek
doi: 10.4274/jcrpe.galenos.2023.2022-6-6  Page 0

15.Decline in the Age of Menarche in İstanbul Schoolgirls Over the Last 12 Years
Tulay Guran, Didem Helvacioglu, Busra Gurpinar Tosun, Zehra Yavas Abali, Fahriye Alir, Yusuf Taha Arslan, Giasim Molla, Berk Sahin, Mehmet Emir Sayar, Zeynep Atay, Belma Haliloglu, Korcan Demir, Serap Turan, Seyhan Hidiroglu, Abdullah Bereket
doi: 10.4274/jcrpe.galenos.2023.2022-11-16  Page 0

16.Evaluation of The Effects of Carob (Ceratonia Siliqua L.) Fruits on the Puberty of Rats
Aylin Kılınç Uğurlu, Aysun Bideci, Elvan Anadol, İpek Süntar, Gülnur Take Kaplanoğlu, Özlem Gülbahar, Zeynep Şafak Teksin, Duygu Dayanır, Tuba Saadet Deveci Bulut, Canan Uluoğlu, M. Orhun Çamurdan
doi: 10.4274/jcrpe.galenos.2022.2022-7-5  Page 0

17.Novel Modified Algorithm for High Fat/High Energy Density Meal in Type 1 Diabetes: Less Hypoglycemia
Yasemin Atik Altınok, Günay Demir, Hafize Çetin, Samim Özen, Şükran Darcan, Damla Gökşen
doi: 10.4274/jcrpe.galenos.2022.2022-8-10  Page 0

REVIEW
18.Frequently Asked Questions and Evidence-Based Answers on Medical Nutritional Therapy in Children with Type 1 Diabetes for Health Care Professionals
Beyza ELİUZ TİPİCİ, Yasemin ATİK ALTINOK, Alev KESER
doi: 10.4274/jcrpe.galenos.2022.2022-6-4  Page 0

19.Specific Functions of Melanocortin 3 Receptor (MC3R)
Tülin Yanık, Seyda Tuğçe Durhan
doi: 10.4274/jcrpe.galenos.2022.2022-5-21  Page 0

CASE REPORT
20.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

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.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

23.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

24.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

25.A Possibly Fatal Outcome of Oral Contraceptive Therapy: Estrogen Triggered Hereditary Angioedema Attack in An Adolescent
Ugur Berkay Balkanci, Demet Demirkol, Gul Yesiltepe Mutlu, Esra Birben, Ozge Soyer, Ozlem Yilmaz, Cansin Sackesen
doi: 10.4274/jcrpe.galenos.2021.2021.0053  Page 0

26.An Alternative Route of Treatment in Transient Hypothyroxinemia of Prematurity: Rectal Administration of Levothyroxine
Duygu Tunçel, Zeynep İnce, Erhan Aygün, Asuman Çoban
doi: 10.4274/jcrpe.galenos.2021.2021.0153  Page 0

27.Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny- Caffey Syndrome Type 2
Erdal Eren, Havva Tezcan Unlu, Serdar Ceylaner, Omer Tarim
doi: 10.4274/jcrpe.galenos.2021.2020.0315  Page 0

28.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

29.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

30.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

31.Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases
Zeynep Şıklar, Tuğba Kontbay, Kevin Colclough, Kashyap A Patel, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2021.2021.0110  Page 0

32.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

33.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

34.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

35.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

36.Liraglutide Treatment Experience in Morbid Obese Adolescent with a MC4R Gene Variant: Side Effects Reduce Success
Emine Çamtosun, Ayşehan Akıncı, Leman Kayaş, Nurdan Çiftçi, İbrahim Tekedereli
doi: 10.4274/jcrpe.galenos.2021.2021.0158  Page 0

37.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

38.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

39.Maltodextrin May Be a Promising Treatment Modality After Near-total Pancreatectomy in Infants Younger Than Six Months with Persistent Hyperinsulinism: A Case Report
Yasemin Denkboy Ongen, Erdal Eren, Halil Saglam
doi: 10.4274/jcrpe.galenos.2021.2021.0121  Page 0

40.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

41.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

42.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

43.Nephrogenic Syndrome of Inappropriate Antidiuresis Mimicking Hyporeninemic Hypoaldosteronism: Case Report of Two Infants
Jamala Mammadova, Cengiz Kara, Eda Çelebi Bitkin, Elif İzci Güllü, Murat Aydın
doi: 10.4274/jcrpe.galenos.2021.2021.0191  Page 0

44.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

45.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

46.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

47.Primary Thyroid Diffuse Large B-cell Lymphoma in a Child with Hashimoto’s Thyroiditis: A Case Report
Maria Xatzipsalti, Evangelos Bourousis, Maria Nikita, Dimitra Rontogianni, Myrsini. G. Gkeli, Dionisios Chrysis, Aristeidis Giannakopoulos, Dimitrios Delis, Margarita Baka, Andriani Vazeou
doi: 10.4274/jcrpe.galenos.2021.2021.0140  Page 0

48.Prolyl Endopeptidase-like (PREPL) Deficiency Associated with Growth Hormone Deficiency: Case Report
Laura Sayol-torres, Maria Irene Valenzuela, Rosangela Tomasini, Paula Fernández-alvarez, Maria Clemente, Diego Yeste
doi: 10.4274/jcrpe.galenos.2021.2021.0128  Page 0

49.Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review
Isabel Inácio, Joana Serra-caetano, Rita Cardoso, Isabel Dinis, Alice Mirante
doi: 10.4274/jcrpe.galenos.2021.2021.0174  Page 0

50.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

51.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

52.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

53.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

54.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

55.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

56.Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine
Amy Seagroves, Heather M. Ross, Alaina P. Vidmar, Mitchell E. Geffner, William S. Kim, Darryl Hwang, Claudia Borzutzky, Nicole R. Fraga, Mimi S. Kim
doi: 10.4274/jcrpe.galenos.2021.2020.0310  Page 0

57.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

58.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

59.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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