ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 14 Issue: 2 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.A Long-Term Comparison of Presenting Characteristics of Children with Newly Diagnosed Type 1 Diabetes Before and During the COVID-19 Pandemic
Gülay Kaya, Emine Ayça Cimbek, Osman Yeşilbaş, Yusuf Emre Bostan, Gülay Karagüzel
doi: 10.4274/jcrpe.galenos.2021.2021-10-2  Page 0

2.An 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

3.Analysis of Apoptotic, Сlinical, Laboratory Parameters in Type 1 Diabetes and Early Diabetic Nephropathy in Frame of Clustering and Potential Groups Evaluation for Additional Therapeutic Interventions
Burlaka Ie.a.
doi: 10.4274/jcrpe.galenos.2022.2022-1-21  Page 0

4.Autoimmune Primary Adrenal Insufficiency in Children
Nádia Mourinho Bala, Raquel S. Gonçalves, Joana Serra Caetano, Rita Cardoso, Isabel Dinis, Alice Mirante
doi: 10.4274/jcrpe.galenos.2022.2021-11-9  Page 0

5.Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease Model
Leman Damla Kotan
doi: 10.4274/jcrpe.galenos.2022.2022-3-11  Page 0

6.Has The Frequency of Preccocious Puberty and Rapidly Progressive Early Puberty Increased in Girls During the COVID-19 Pandemic?
Kübra Yüksek ACİNİKLİ, İbrahim Mert ERBAŞ, Özge BESCİ, Korcan DEMİR, Ayhan ABACI, Ece BÖBER
doi: 10.4274/jcrpe.galenos.2022.2022-12-11  Page 0

7.Hyperinsulinism may be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
Dogus Vuralli, Yilmaz Yildiz, Alev Ozon, Ali Dursun, Nazli Gonc, Aysegul Tokatlı, H. Serap Sivri, Ayfer Alikasifoglu
doi: 10.4274/jcrpe.galenos.2021.2021-10-14  Page 0

8.Incidence of Newly Diagnosed Type 1 Diabetes Mellitus in Children and Adolescents in Henan Province of China from 2017 to 2020: A Retrospective Multicenter Study Based on Hospitalization Data
Qiong Chen, Na Xu, Yongxing Chen, Mingming Yan, Fengyan Tian, Wei Yang, Yan Cui, Ai Huang, Yangshiyu Li, He Zhang, Zhihong Jiang, Ruizhi Zheng, Yuan Ji, Dongming Zhang, Qiao Ren, Li Ding, Haiyan Wei
doi: 10.4274/jcrpe.galenos.2022.2021-12-4  Page 0

9.Psychometric Properties of the Turkish Version of the Diabetes Strengths and Resilience Measure for Adolescents with Type 1 Diabetes
Aslı DEMİRTAŞ, Burcu AYKANAT GİRGİN, Ayla GÜVEN, Heves KIRMIZIBEKMEZ
doi: 10.4274/jcrpe.galenos.2022.2022-2-10  Page 0

10.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

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

REVIEW
12.Emergence of Ectopic Adrenal Tissues - What are the Probable Mechanisms?
Gürkan Tarçın, Oya Ercan
doi: 10.4274/jcrpe.galenos.2021.2021.0148  Page 0

CASE REPORT
13.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

14.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

15.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

16.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

17.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

18.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

19.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

20.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

21.Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment
Tuğba Kontbay, Zeynep Şıklar, Serdar Ceylaner, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2021.2020.0273  Page 0

22.Clinical features in patients with Xq23 microdeletion: A case report and literature review (Xq23 microdeletions)
Qın Lu, Zhang Fei-zhou, Lv Jian-hai, Tang Lan-fang
doi: 10.4274/jcrpe.galenos.2020.2020.0100  Page 0

23.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

24.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

25.DIFFERENTIAL DIAGNOSIS OF ACROMEGALY: PACHYDERMOPERIOSTOSIS TWO NEW CASES, TURKEY
Emine Kartal Baykan, Ayberk Türkyılmaz
doi: 10.4274/jcrpe.galenos.2021.2020.0301  Page 0

26.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

27.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

28.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

29.Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome in two siblings; same mutation but different clinical manifestations at onset
Gulay Karaguzel, Recep Polat, Mehtap H Abul, Alper Han Cebi, Fazil Orhan
doi: 10.4274/jcrpe.galenos.2021.2021.0005  Page 0

30.Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia
Ana Castellano-martinez, Silvia Acuñas-soto, Virginia Roldan-cano, Moises Rodriguez-gonzalez
doi: 10.4274/jcrpe.galenos.2021.2020.0287  Page 0

31.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

32.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

33.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

34.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

35.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

36.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

37.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

38.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

39.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

40.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

41.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

42.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

43.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

44.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

45.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

46.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
47.Children with Newly Diagnosed Type 1 Diabetes Before and During the COVID-19 Pandemic
Rujittika Mungmunpuntipantip, Viroj Wiwanitkit
doi: 10.4274/jcrpe.galenos.2022.2022-3-22  Page 0
Abstract | Full Text PDF

SHORT COMMUNICATION
48.Diagnostic Power of Bilateral Inferior Petrosal Sinus Sampling with Desmopressin in Paediatric Cushing’s Disease
Manuel André Virú-loza, Andrea Venegas Quispe
doi: 10.4274/jcrpe.galenos.2021.2021-12-9  Page 0

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