Archives - Journal of Clinical Research ın Pediatric Endocrinology

Research Article 12

Original Article 15

Letter to the Editor 1

Case Report

Clinical and Genetic Analyses of Two Unrelated 46, XX Girls with Combined 17α-Hydroxylase/17,20-lyase Deficiency from China

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Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome

Sirmen Kızılcan Çetin

Zeynep Şıklar

Hasan Fatih Çakmaklı

Gizem Şenyazar

Serdar Ceylaner

Merih Berberoğlu

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Adult Outcome After Partial Androgen Insensitivity Syndrome: Diagnosed and Assigned Female in Infancy

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A Rare Presentation of 17α Hydroxylase/17,20 Lyase Deficiency in a Patient with non-Hodgkin’s Lymphoma: A Case Report

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A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency

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Unraveling the Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? Case Presentation

Sirmen Kizilcan Cetin

Serdar Ceylaner

Merih Berberoğlu

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Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism

Karuppiah Thilakavathy

Nurul Huda Musa

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Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl

Meng Ju Melody Tsai

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Cabergoline Induced Pathological Gambling in an Adolescent with Prolactinoma

Ozlem Nida Erbasi

Aslı Derya Kardelen

Sukran Poyrazoglu

Feyza Darendeliler

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A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report

Ozge Bayrak Demirel

Esin Karakilic-Ozturan

Sule Ozturk Sari

Asli Derya Kardelen Al

Sukran Poyrazoglu

Feyza Darendeliler

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Lymphocytic Infundibuloneurohypophysitis Diagnosis Owing to Positive Anti-rabphilin-3A Antibody Test Result in an 8-year-old Boy with Early-onset Central Diabetes İnsipidus

Haruki Fujisawa

Yoshihisa Sugimura

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Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion

Magnus Burstedt

Irina Golovleva

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A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism Due to a Novel Homozygous Variant in the SCNN1B Gene

Zeynep Donbaloğlu

Ebru Barsal Çetiner

Kürşat Çetin

Nurten Özkan Zarif

Özden Altıok Clark

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Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report

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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

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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

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Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR Gene

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Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria

Luciana Pinto Valadares

Daniel Rocha de Carvalho

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Clinical and Molecular Landscape of Weiss–Kruszka Syndrome: A Case Report and Literature Review

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Permanent Neonatal Diabetes with High Insulin Requirements Due to a New Variant in the INS Gene

Johana Andrea Botero Hernández

Gina González-Valencia

Gabriel del Castillo

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A Rare Cause Of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome

Duygu Çetinkaya

Gönül Büyükyılmaz

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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

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Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment

Sirmen Kizilcan Cetin

Ayca Kırmızı

Handan Dincaslan

Merih Berberoğlu

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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

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Atypical Presentation and Course of ACTH-independent Cushing’s Syndrome in Two Families

Kübra Yüksek Acinikli

Özgür Kırbıyık

Gözde Akın Kağızmanlı

Deniz Kızmazoğlu

Kutsal Yörükoğlu

Handan Güleryüz

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Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy

Hilal Sekizkardes

Murat Hakki Yarar

Zehra Yavas Abali

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Acute Kidney Injury After Thyroid Hormone Withdrawal in an Adolescent with Papillary Thyroid Carcinoma

Rüveyda Gülmez

Gürkan Tarçın

Dilek Bingöl Aydın

Olcay Evliyaoğlu

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A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review

Sema Nilay ABSEYİ

Ayten KAYI CANGIR

Emel CABİ ÜNAL

Nurdan TAÇYILDIZ

Merih BERBEROĞLU

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Worsening of Congenital Hypothyroidism After Start of Carob-bean Gum Thickened Formula: Is There a Link? A Case Report

Claudia Signorino

Giovanna Municchi

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Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants

Fatma Güliz Atmaca

Özlem Akgün Doğan

Büşra Kutlubay

Heves Kırmızıbekmez

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Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder

Zeynep Donbaloğlu

Ebru Barsal Çetiner

Kürşat Çetin

Belgin Akcan Paksoy

Hale Ünver Tuhan

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A Rare Case of Monogenic Obesity due to a Novel Variant in the ADCY3 Gene: Challenges in Follow-up and Treatment

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Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma

Deniz Koçak Göl

Christoph Klein

Nihal Hatipoglu

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Hereditary Pheochromocytoma as a Main Manifestation of von Hippel Lindau Disease (vHL) in Childhood – A Long-term Follow-up of 5 Patients with vHL from One Family

Katarzyna Pasternak-Pietrzak

Agata Kozlowska

Elzbieta Moszczynska

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Atypical Presentation of New Onset Diabetes with Hyperglycemic Hyperosmolar State in Two Toddlers

Esther E Bell-Sambataro

Kathryn Obrynba

Jennifer M Ladd

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Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature

Tuğçe Kandemir

Esin Karakilic Ozturan

Ayça Dilruba Aslanger

Elif İnan Balcı

Aslı Derya Kardelen Al

Şükran Poyrazoğlu

Feyza Darendeliler

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Research Article

The Effect of Problematic Internet Use, Internet Gaming Disorder and Cyberbullying/Victimization Levels on Self-Esteem in Obese Adolescents

Havvanur Eroğlu Doğan

Mustafa Özgür Pirgon

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Body Composition Changes and Catch-up Growth in Pre-pubertal Children with Short Stature: A Longitudinal Retrospective Cross-sectional Cohort Study

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Evaluation of Heavy Menstrual Bleeding in Adolescents

Tuğba Kontbay Çetin

Zuhal Keskin Sarılar

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Assessment of Quadriceps Muscle Strength and Thickness in Adolescents with Polycystic Ovary Syndrome: A Case-control and Longitudinal Follow-up Study

Ayşe Gül Güven

Demet Aygün Arı

Erdem Karabulut

Hüseyin Demirbilek

Gürkan Bozdağ

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Attitudes Towards the Management of Congenital Hypothyroidism in Türkiye: National Survey Study

Aydilek Dagdeviren Cakır

Gul Yesiltepe Mutlu

Thyroid Research Group

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Neurodevelopmental Disorders, Cognitive Functions, and Quality of Life in Children with Congenital Hypothyroidism in a Portuguese Population

Laura Leite-Almeida

Inês Pais-Cunha

Bárbara Pereira-Neto

Rita Santos Silva

Micaela Guardiano

Cíntia Castro-Correia

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Automatic Bone Age Determination in Adult Height Prediction for Girls with Early Variants Puberty and Precoccious Puberty

Murat Huseyin Yigit

Gul Yesiltepe Mutlu

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Frequency of “PCOS” and “Being at Risk for PCOS” in Obese Adolescent Girls in Light of Current Definitions

Fatma Güliz Atmaca

Esma Ebru Altun

Heves Kırmızıbekmez

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What to Do for Atypia of Uncertain Significance in Pediatric Thyroid Nodules?

Zulal Ozdemir Uslu

Elif Tugce Tunca Kucukali

Ibrahim Karaman

Semra Cetinkaya

Nursel Muratoglu Sahin

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Genotype, Phenotype, and Clinical Characteristics of Maturity-onset Diabetes of the Young (MODY): Predominance of GCK-MODY

Ayşehan Akıncı

Emine Çamtosun

İsmail Dündar

Nurdan Çiftçi

İbrahim Tekedereli

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What is the Most Effective Method for Predicting Adult Height in Boys with Constitutional Delay of Growth and Puberty?

Gözde Akın Kağızmanlı

Deniz Özalp Kızılay

Reyhan Deveci Sevim

Kübra Yüksek Acinikli

Fulya Mete Kalaycı

Ayşegül Tekneci

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Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience

Akçahan Akalın

Enise Avcı Durmuşalioğlu

Şervan Özkalkak

Ruken Yıldırım

Türkan Turkut Tan

Yusuf Can Doğan

Özgür Çoğulu

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Original Article

Is Automated Insulin Delivery System Therapy Safe and Effectıve in Children Under 7 Years Old?

Deniz Ozalp Kizilay

Yasemin Atik Altinok

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Current Practices in Hashimoto's Thyroiditis: Differences in Attitudes Between Pediatric and Adult Endocrinologists in Türkiye: A National Survey

Gul Yesiltepe Mutlu

Aydilek Dagdeviren Cakır

Thyroid Working Group

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The Impact of the 2023 Turkey Earthquakes on Glycemic Control and Stress Levels in Children with Type 1 Diabetes: Single-center Experience

Seda Aybüke Sarı

Simge Bilaloğlu

Şeyma Demiray Güllü

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Machine Learning-driven Identification of the Honeymoon Phase in Pediatric Type 1 Diabetes and Optimizing Insulin Management

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Diagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum

Yasemin Kendir Demirkol

Ahmet Hamdi Akgülle

Heves Kırmızıbekmez

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Normative Values for Thyroid Volume and Tracheal Index in Healthy Turkish Newborns in an Iodine Sufficient Region

Reyhan DEVECİ SEVİM

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ACTION Teens Global Survey-Türkiye Report: More Worry and Less Motivation for Adolescents Living with Obesity

Abdullah Bereket

Neşe Perdahlı Fiş

Belma Haliloğlu

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Clinical Characteristics and Genotype-Phenotype Correlation in the Patients with the Diagnosis of Resistance to Thyroid Hormone Beta

Gönül Büyükyılmaz

Büşranur Çavdarlı

Serkan Bilge Koca

Keziban Toksoy Adıgüzel

Nur Semerci Gündüz

Hüseyin Demirbilek

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Serum Neudesin Levels in Patients with Congenital Hypothyroidism

İlker Tolga Özgen

Caner Yıldız3, Ömer Faruk Özer

Emel Hatun Aytaç Kaplan

Zümrüt Kocabey Sütçü

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Could MOTS-C Levels in Children with Type 1 Diabetes Mellitus Be an İndicator for Early Diabetic Kidney Disease?

İlknur Girisgen

Selda Ayça Altıncık

Gaye Malaş Öztekin

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Adaptation/Validity-reliability Evaluation of Menstruel Bleeding Questionnaire to Turkish Adolescent Girls

Aşan Önder Çamaş

Hamdi Cihan Emeksiz

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The Effect of Parental Collaboration on Diabetes Self-Efficacy, Quality of Life and HbA1c Level in Adolescents Diagnosed with Type 1 Diabetes

Beste Özgüven Öztornacı

Esra Ardahan Akgül

Hatice Yıldırım Sarı

Bumin Nuri Dündar

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Germ Cell Dysfunction is Universal in Male Patients with β-Thalassemia Following Hematopoietic Stem Cell Transplantation During Childhood and Adolescence

Nuttha Piriyapokin

Pat Mahachoklertwattana

Preamrudee Poomthavorn

Usanarat Anurathapan

Wararat Chiangjong

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Evaluation of Arrhythmia Risk in Children with Type 1 Diabetes Mellitus

Yasemin ÖZDEMİR ŞAHAN

Gönül BÜYÜKYILMAZ

Oğuzhan DOĞAN

İbrahim İlker ÇETİN

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Review

Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment

Kübra Yüksek Acınıklı

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Endocrine Implications of Congenital Disorders of Glycosylation

Zeynep Alev Özön

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Expanding the Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings

Sevgi Bilgiç Eltan

Asena Pınar Sefer

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Approach to Newborns with Elevated TSH: A Different Perspective from the International Guidelines for Iodine-Deficient Countries

Hüseyin Anıl Korkmaz

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Pediatric Type 1 Diabetes Care in Indonesia: A Review of Current Challenges and Practice

Ghaisani Fadiana

Helena Arnetta Puteri

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Association between Circulating Amino Acids and Childhood Obesity: A Systematic Review and Meta-Analysis

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Letter to the Editor

Can Dietary Acid Load in Obese Adolescents Interfere with Cardiometabolic Risk, Psychological Resilience and Sleep Quality?

Nadia Raci Marques Pereira

Andreia Bezerra

WITHDRAWN

WITHDRAWN: Triglyceride Glucose Index as a Surrogate Measure of Insulin Sensitivity in a Caucasian Pediatric Population

Valeria Calcaterra

Chiara Montalbano

Annalisa de Silvestri

Corrado Regalbuto

Valeria Paganelli

Riccardo Albertini

Francesco Delle Cave

Daniela Larizza

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