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Volume 17, Issue 4

December 2025

Current Issue Ahead of Print Archives

Research Article 22

Original Article 2

Research Article

Social Cognition in Adolescents With Gender Dysphoria and Congenital Adrenal Hyperplasia: A Preliminary Investigation of Biological vs. Experiential Gender Effects

Begum Yulug-Tas

Ipek Inal-Kaleli

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Measurement of 11-Oxo-Androgens, A Novel Biomarker, in Females with Clinical Signs of Premature Adrenarche

Jorge Mejia-Corletto

Meredith Akerman

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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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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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Improving Diabetes Care Through Teamwork, Comprehensive Education, Tighter Goals, and Technology: Single-Center Data from Türkiye

Kagan Ege Karakus

Gul Yesiltepe Mutlu

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Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal Management

Elzbieta Marczak

Maria Szarras-Czapnik

Kinga Kowalczyk

Gabriela Grochowska

Malgorzata Walewska-Wolf

Barbara Antoniak

Katarzyna Bajszczak

Elżbieta Moszczyńska

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Isolated Hypoglyceamia in Children with Cystic Fibrosis: Role of Pancreatic Insufficiency and Glucagon Response

Belma Haliloglu

Tuba Seven Menevse

Seda Gulec Yilmaz

Busra Gurpinar Tosun

Serap Demircioglu

Yasemin Gokdemir

Abdullah Bereket

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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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The Course of Progranulin Levels at Admission and During Early Period of Insulin Treatment in Children with Newly Diagnosed Type 1 Diabetes Mellitus

Ayse Sena Donmez

Alev Lazoglu Ozkaya

Serap Kilic Kaya

Serkan Bilge Koca

Huseyin Demirbilek

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Association with Metabolic Syndrome in Children Diagnosed with Type 1 Diabetes Mellitus: A Cross-sectional Study

Serpil Albayrak

Murat Karaoglan

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Challenges in Sex Assignment in 46,XX Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency and 11β-hydroxylase Deficiency in Developing Countries: Insights from an Expert Center in Indonesia

Irene Astrid Larasati

Annastasia Ediati

Hedi L. Claahsen - van der Grinten

Tri Indah Winarni

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Real-World Efficacy of Weekly Somatrogon on Growth and Bone Health in Pediatric Growth Hormone Deficiency: A 12-Month Retrospective Cohort Study

Mohammad Hosny Awad

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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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Mucopolysaccharidosis or Skeletal Dysplasia?: Important Clinical and Radiologic Clues for Differential Diagnosis of Based on Difficult Cases

Kübra Çilesiz

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Type 1 Diabetes Mellitus and Transfer from Pediatric to Adult Care: A Single-Center Experience

Betül Yiğit Yalçın

Hülya Hacısahinogulları

Gülşah Yenidünya Yalın

Ozlem Soyluk Selcukbiricik

Ayşe Kubat Üzüm

Sukran Poyrazoglu

Kubilay Karşıdağ

Feyza Darendeliler

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Associations Between Dietary Diversity Score and Adiposity Indexes in Obese Adolescents

Rukiye Bozbulut

Mehmet Ali Oktay

Aylin Kılınç Uğurlu

Mahmut Orhun Çamurdan

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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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Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia Due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency

Kürşat Çetin

Zeynep Donbaloglu

Yasemin Funda Bahar

Sezin Yakut Uzuner

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Peer Victimization and Psychological Outcomes in Adolescents with Pubertal Gynecomastia: A Case-Control Study

Yasin Çalışkan

Zümrüt Kocabey Sütçü

Emel Hatun Aytaç Kaplan

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

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

Dilara Yücedal

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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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18p Deletion Syndrome Associated with Type 1 Diabetes and Hashimoto’s Thyroiditis: A Case Report on Autoimmune Disorders and Genetic Factors

Mehmet Ali Oktay

Elif Tuğçe Tunca Küçükali

Aylin Kılınç Uğurlu

Gülsüm Kayhan

Mahmut Orhun Çamurdan

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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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A Rare Cause of Sacral Insufficiency Fracture in Adolescence: Autosomal Dominant Hypophosphatemic Rickets due to Fgf23 de novo P.Arg176trp Variant

Emel Hatun Aytaç Kaplan

Aydeniz Aydın Gümüş

Şeyda Doğantan

Mehmet Ali Talmaç

Zümrüt Kocabey Sütçü

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Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion

Magnus Burstedt

Irina Golovleva

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The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome

Kübra Şen Küçük

Aydan Mengübaş Erbaş

Zehra Manav Yiğit

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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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A Novel THRβ Variant in a Child With Resistance to Thyroid Hormone β: Diagnostic and Therapeutic Challenges

Gözde Gürpınar

Duygu Gamze Aracı

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

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Diazoxide and Continuous Glucose Monitoring as Treatment in a Neonate with Hyperinsulinemic Hypoglycemia due to HNF4A Mutation

Georgia Sotiriou

Stilianos Xinias

Valentina Diamantidou

Anny Mertzanian

Meropi Dimitriadou

Amalia Sertedaki

Athanasios Christoforidis

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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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Reversible Injection-Site Lipoatrophy Induced by Long-Acting Growth Hormone (Somatrogon) in Pediatric Growth Hormone Deficiency: A Case Series

Kübra Şen Küçük

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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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Severe Familial Hypertriglyceridemia in a Child with Compound Heterozygous Pathogenic APOA5 Variants: A Case Report and Therapeutic Challenge

Dimitrije Cvetković

Deana Bezbradica

Vladislav Vukomanović

Adrijan Sarajlija

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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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Coexistence of T1DM and GCK-MODY: Case Report and Literature Review

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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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FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI

Gülümay Vural Topaktaş

Berna Eroğlu Filibeli

Taha Reşid Özdemir

Özgür Kırbıyık

Tayfun Çinleti

Bumin Nuri Dündar

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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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X-linked Osteoporosis due to PLS3 Pathogenic Variant: Case Report on Zoledronic Acid Treatment in Siblings

María Camila Velandia-Avendaño

María Paula Sarmiento-Ramón

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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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Brief Report

Glucocorticoid Dose and Type are Associated with Depression Scores in Youth with Classical Congenital Adrenal Hyperplasia

Mark Chih-Wei Liang

Megan M. Herting

Mitchell E. Geffner

Tania A.S.S Bachega

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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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