Archives - Journal of Clinical Research ın Pediatric Endocrinology

Research Article 20

Original Article 2

Case Report

Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2

Laura Sayol-Torres

Ariadna Campos-Martorell

Julia Sala-Coromina

Paula Fernández-Álvarez

Amaia Lasa-Aranzasti

Maria Clemente León

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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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A Case of Secondary Pseudohypoaldosteronism in a Neonate not Due to Urinary Tract Issues

Ecem İpek Altınok

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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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A Rare Presentation of HIST1H1E Syndrome with Short Stature and Multiple Pituitary Hormone Deficiencies

Elvan Bayramoğlu

Gökçe Velioğlu Haşlak

Olcay Evliyaoğlu

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Two Countries, One Metabolic Dilemma: Nutritional Management of Concurrent Maple Syrup Urine Disease and Type 1 Diabetes Mellitus

Pınar Kılıçdağı Çanakcı

Marta Suárez Gonzále

Ayşegül Ceran

Isolina Riaño Galán

Fatma Tuba Eminoğlu

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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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Long-Term Follow-up of a Case with TBX19 Mutation, a Rare Cause of Isolated ACTH Deficiency and Literature Review

Sirmen Kizilcan Cetin

Merih Berberoglu

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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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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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A Case of Adolescent Girl with Hypercalcemia Resistant to Medical Treatment Due to Giant Breast Fibroadenoma

Kürşat Çetin

Yasemin Funda Bahar

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

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A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene

Emine Çamtosun

İsmail Dündar

Zeynep Yamancan Yılmaz

İbrahim Tekedereli

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

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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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Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes

Nanis S Marzuki

Hannie DH Kartapradja

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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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Duplication in the SHOX Gene as a Rare Genetic Cause of Short Stature and/or Skeletal Abnormalities: A Clinical Report and Review of the Literature

Gülçin Arslan

Tayfun Çinleti

İnci Türkan Yılmaz

Merve Saka Güvenç

Bumin Nuri Dündar

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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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Development of Dysplastic Nevi in a Child with LEPR Deficiency Treated with Setmelanotide

Yasemin Denkboy Öngen

Şaduman Balaban Adım

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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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A Case of Carney Complex with Pontine Glioma

Gülümay Vural Topaktaş

Emrullah Arslan

Tayfun Çinleti

Bumin Nuri Dündar

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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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Hereditary Hypophosphatemic Rickets with Hypercalciuria - Importance of Further Evaluation If Clinical Suspicion is Strong

Chathupani Anuradha Wettasinghe

Ishara Minuri Kumarasiri

Mahendralingam Vidushajini

Thabitha Jebaseeli Hoole

Manimel Wadu Akila Nimanthi

Imalka Jayasundara

Reha Balasubramaniam

Navoda Atapattu

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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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A Comprehensive Child Psychiatry Approach for Managing Patients with Differences of Sexual Development in a Multidisciplinary Setting: An Alternative Follow-up Model

N. Burcu Özbaran

Hazal Yağmur Yılancıoğlu

İpek İnal Kaleli

Yağmur Beste Cankorur Haklı

Deniz Özalp Kızılay

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Founder Pathogenic Variant in LMNA and Its Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort

Zehra Manav Yigit

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Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia

Ayşe Yüksel Yanbolu

Sakina Mammadova

Sedef Alpdoğan

Merve Yoldaş Çelik

Yasemin Atik Altınok

Sema Kalkan Uçar

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Evaluation of Heavy Menstrual Bleeding in Adolescents

Tuğba Kontbay Çetin

Zuhal Keskin Sarılar

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Myocardial Performance Index and Carotid Intima-Media Thickness in Children with Metabolically Healthy and Metabolically Unhealthy Obesity

Nazlican Civilibal Tang

Kazım Oztarhan

Ata Mert Civilibal

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Associations of Urinary Metabolites of Parabens and Bisphenol a with Premature Thelarche Among a Sample of Iranian Girls

Nafiseh Mozafarian

Mahin Hashemipour

Mohammad Reza Maracy

Hamid Galehdari

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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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Nailfold Capillaroscopy: A Non-invasive Tool for Early Detection of Microvascular Alterations in Children with Type 1 Diabetes Mellitus

Gözde Akın Kağızmanlı

Kübra Yüksek Acinikli

Rana İşgüder

Zehra Kızıldağ Karabacak

Şevket Erbil Ünsal

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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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Responses of Different Artificial Intelligence Systems to Questions Related with Short Stature as Assessed by Pediatric Endocrinologists

Özgür Fırat Özpolat

Ayşe Sena Dönmez

Serap Kılıç Kaya

Serkan Bilge Koca

Hüseyin Demirbilek

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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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Comparison of Methods Used for Final Height Prediction in Central Precocious Puberty Patients

Aşan Önder Çamaş

Burçin Çiçek

Merve Nur Hepokur

Hamdi Cihan Emeksiz

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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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Association of Obesity and Overweight with Early Puberty in Boys: A Meta Analysis

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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 Özalkak

Ruken Yıldırım

Türkan Turkut Tan

Yusuf Can Doğan

Özgür Çoğulu

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Growth Hormone Strongly Induces hSMN2 Promoter Driving Construct Gene Expression in Mammalian Cells

Dilara Yücedal

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Review

Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment

Kübra Yüksek Acınıklı

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Diabetic Peripheral Neuropathy in Children and Adolescents - Prevalence, Diagnostic Methods and Risk Factors

Marta Baszyńska-Wilk

Monika Nowacka-Gotowiec

Elżbieta Moszczyńska

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Endocrine Implications of Congenital Disorders of Glycosylation

Zeynep Alev Özön

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Pathogenesis of Thyroid Cancer with Particular Emphasis on the Role of Anoikis

Gözde Akın Kağızmanlı

Selen Kum Özşengezer

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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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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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