ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 14 Issue: 3 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.Are Thyroid Functions Affected in Multisystem Inflammatory Syndrome in Children?
Aysegul Elvan-tuz, Ilkay Ayranci, Yildiz Ekemen-keles, Inanc Karakoyun, Gonul Catli, Ahu Kara-aksay, Eda Karadag-oncel, Bumin Nuri Dundar, Dilek Yilmaz
doi: 10.4274/jcrpe.galenos.2022.2022-4-7  Page 0

3.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

4.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

5.Cord Blood Levels of Spexin, Leptin, and Visfatin in Term Born Small, Appropriate, and Large for Gestational Age Infants and Their Association with Newborn Anthropometric Measurements
Yücel Pekal, Bayram Özhan, Yaşar Enli, Özmert M. A. Özdemir, Hacer Ergin
doi: 10.4274/jcrpe.galenos.2022.2022-4-24  Page 0

6.Effect of Propolis on Precocious Puberty in Female Rats
Recep Polat, Erdem Çokluk, Özcan Budak, Fatıma Betül Tuncer
doi: 10.4274/jcrpe.galenos.2022.2022-1-18  Page 0

7.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

8.Evaluation of Glucose Metabolism and Cardiovascular Risk Factors in Prepubertal Girls with Premature Pubarche
Digdem Bezen, Filiz Tutunculer Kokenli, Emine Dilek, Didem Ag Seleci, Hakan Erbas
doi: 10.4274/jcrpe.galenos.2022.2022-1-1  Page 0

9.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

10.FGF21 Levels and Bone Mineral Density in Metabolically Healthy and Metabolically Unhealthy Obese Children
Filiz Akduman, Zeynep Şıklar, Elif Özsu, Özlem Doğan, Metin Kemal Kır, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2022.2022-1-15  Page 0

11.Is There a Predictive Factor for Autoimmune Glanduler Disease Association in Children Diagnosed with Celiac Disease?
Fatma İlknur Varol, Emine Çamtosun, Mukadder Ayşe Selimoğlu, Şükrü Güngör
doi: 10.4274/jcrpe.galenos.2022.2022-2-14  Page 0

12.The Assessment of the Hypothalamic-Pituitary-Adrenal Axis After Oncological Treatment in Pediatric Patients with Acute Lymphoblastic Leukemia
Barbara Hull, Anna W&281;drychowicz, Magdalena Ossowska, Aleksandra Furtak, Joanna Badacz, Szymon Skocze&324;, Jerzy. B Starzyk
doi: 10.4274/jcrpe.galenos.2022.2022-2-2  Page 0

13.The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results
Sirmen Kizilcan Cetin, Mehmet Gokhan Ramoglu, Zeynep Sİklar, Elif Ozsu, Zehra Aycan, Hasan Ercan Tutar, Merih Berberoglu
doi: 10.4274/jcrpe.galenos.2022.2022-12-13  Page 0

14.Thyroid Function in 509 Premature Newborns Below 31 Weeks of Gestational Age: Evaluation and Follow-up
Ariadna Campos-martorell, Alicia Montaner Ramon, Karla Narváez Barros, Jose Luis Marin Soria, Rosa Maria López Galera, Diego Yeste Fernández, María Clemente León
doi: 10.4274/jcrpe.galenos.2022.2022-2-1  Page 0

15.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

REVIEW
16.Advances in Diagnosis and Management of Childhood Osteoporosis
Dbn Lim, RJ Moon, JH Davies
doi: 10.4274/jcrpe.galenos.2022.2022-8-3  Page 0

17.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
18.A Novel Heterozygous ACAN Variant in a Short Patient Born Small for Gestational Age with Recurrent Patellar Dislocation: A Case Report
Su Ji Kim, Jong Seo Yoon, Il Tae Hwang
doi: 10.4274/jcrpe.galenos.2021.2021.0081  Page 0

19.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

20.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

21.A novel mutation in the TRIP11 gene: Diagnostic approach from relatively common skeletal dysplasias to an extremely rare Odontochondrodysplasia
Burcu Yeter, Ayca Dilruba Aslanger, Gözde Yesil, Nursel H. Elcioglu
doi: 10.4274/jcrpe.galenos.2021.2021.0099  Page 0

22.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

23.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

24.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

25.Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, Who Had Congenital Hypothyroidism as the First Manifestation
Somboon Wankanit, Pat Mahachoklertwattana, Thipwimol Tim-aroon, Kinnaree Sorapipatcharoen, Preamrudee Poomthavorn
doi: 10.4274/jcrpe.galenos.2021.2021.0141  Page 0

26.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

27.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

28.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

29.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

30.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

31.GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development; Review of The Literature
Nurullah Çelik, Hande Küçük Kurtulgan, Fatih Kılıçbay, Gaffari Tunç, Ayça Kömürlüoğlu, Onur Taşcı, Cemile Ece Çağlar Şimşek, Taha Çınar, Yeşim Sıdar Duman
doi: 10.4274/jcrpe.galenos.2021.2021.0112  Page 0

32.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

33.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

34.Juvenile Granulosa Cell Tumor Mimicking HAIR-AN in a 4-Year-Old: A Case Report
Rachel Choe Kim, Ilya 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

35.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

36.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

37.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

38.Menstrual Suppression in Gender Minority Youth
Sinem Akgül, Zeynep Tüzün, Melis Pehlivantürk Kızılkan, Zeynep Alev Ozon
doi: 10.4274/jcrpe.galenos.2021.2020.0283  Page 0

39.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

40.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

41.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

42.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

43.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

44.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

45.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

46.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

47.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

48.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

49.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

50.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

51.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

52.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

LETTER TO THE EDITOR
53.Beta-blocker Rebound Phenomenon in an Adolescent with Graves’ Disease
Ahmet Anık
doi: 10.4274/jcrpe.galenos.2022.2022-6-2  Page 0
Abstract | Full Text PDF

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