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Volume 18, Issue 3

September 2026

Current Issue Ahead of Print Archives

Original Article 6

Letter to the Editor 1

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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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 13-Year-Old Girl with Congenital Hyperinsulinemic Hypoglycemia Due to an ABCC8 Mutation and Recent Onset of Diabetes Mellitus: A Case Report and Literature Review

Aikaterini Kantzavelou

Ekaterini Siomou

Anny Mertzanian

Amalia Sertedaki

Christina Kanaka-Gantenbein

Anastasios Serbis

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Off-Label Use of Teriparatide for Osteotomy Healing in an Adolescent with Osteogenesis Imperfecta Type VIII: A Case Report

Sare Betül Kaygusuz

Ahmet Hamdi Akgülle

Motasim Khalid Bavaneh

Didem Helvacıoğlu

Zehra Yavaş Abalı

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Osteogenesis Imperfecta with Pes Equinovarus: A Rare Combination and a Rare Col1a1 Variant

Nurhan Özcan Murat

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

Ayşegül Ceran

Zeynep Şıklar

Sirmen Kızılcan Çetin

Merih Berberoğlu

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Case Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases

Aydilek Dağdeviren

Dilek Bingöl Aydın

Gökçe Velioğlu Haşlak

Elvan Bayramoğlu

Olcay Evliyaoğlu

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Primary Adrenal Insufficiency in Pseudo-Neonatal Adrenoleukodystrophy Case Report

Fatma Derya Bulut

Leman Damla Kotan

Ayşe Merve Çimen

Neslihan Önenli Mungan

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

Kübra Şen Küçük

Aydan Mengübaş Erbaş

Zehra Manav Yiğit

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An Unexpected Result in a Case of Gonadal Dysgenesis: Noonan Syndrome Caused by RIT1 Mutation

Şafak Demirtaş

Zeynep Şıklar

Sirmen Kızılcan Çetin

Sema Nilay Abseyi

İlkyaz Türktan

Merih Berberoğlu

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Prolactinoma Associated with L-Dopa–Resistant Hyperprolactinemia in a Child with Tetrahydropterin (BH4) Deficiency

Fatma Özgüç Çömlek

Hümeyra Yaşar Köstek

Şebnem Kılıç

Filiz Tütüncüler Kökenli

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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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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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Symptomatic Hypercalcemia with Vomiting in a Pediatric Patient with Graves’ Disease

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Microscopic Müllerian Duct Remnants in a 46,XY Individual with Genetically Confirmed 17α-Hydroxylase/17,20-Lyase Deficiency: an Unexpected Histopathological Finding

Leyla Gizem Bolaç Özyılmaz

Ertuğrul İnan

Bilge Aydın Behram

Aydilek Dağdeviren Çakır

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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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A Novel Biallelic Variant in The SERPINH1 Gene in Two Siblings Diagnosed with Osteogenesis Imperfecta Type X: Evidence of Intrafamilial Clinical Variability

Akçahan Akalın

İsmet Rezani Toptancı

Şervan Özalkak

Ruken Yıldırım

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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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Late Recognition of Aromatase Deficiency Following 16 Years of Misdiagnosis as Congenital Adrenal Hyperplasia: A Case with Coexisting Gonadoblastoma and Dysgerminoma

Abdulaziz Turkistani

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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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Late-Onset and Recurrent Agranulocytosis During Low-Dose Methimazole Therapy in an Adolescent with Graves’ Disease

Betül Demircan Coşkun

Şebnem Yılmaz

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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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Short Stature and Growth Hormone Deficiency in POMC Deficiency: An Unexpected Clinical Association

Uğur Cem Yılmaz

Deniz Özalp Kızılay

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Revisiting the Association of Central Precocious Puberty with Neurovisceral Diseases owing to a Girl with Niemann-Pick Disease Type C

Zümrüt Arslan Gülten

Burçin Nazlı Karacabey

Bilge Aydın Behram

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Neonatal Cholestasis Caused by Graves' Disease: A Case Report and Literature Review

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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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Striking Scrotal Hyperpigmentation as an Early Clinical Sign of Familial Glucocorticoid Deficiency Type 2: A Case with Homozygous MRAP Variant

Gözde Gürpınar

Duygu Gamze Aracı

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Original Article

Differential Impact of Type 1 Diabetes on Bone Outcomes in Children

Sarah Wing-yiu Poon

Gloria Shir-wey Pang

Dick Chun-yin Li

Joanna Yuet-ling Tung

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Long-Term Results of Long-Acting Somatostatin Analog Therapy in Children with Congenital Hyperinsulinism

Amine Aktar Karakaya

Funda Feryal Taş

Ruken Yıldırım

Şervan Özalkak

Hüseyin Demirbilek

Mehmet Nuri Özbek

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The Viral Legacy in Diabetic Ketoacidosis: Impact of Concurrent Respiratory Viral Infections on Acute Severity and Long-Term Glycemic Control in Children With Newly Diagnosed Type 1 Diabetes

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Risk Factors for Cerebral Edema in Pediatric Diabetic Ketoacidosis: a Systematic Review and Meta-Analysis of Observational Studies

Luis Gabriel Rocha

Rayzha Kruzhkaya Cuellar

Liuba Alexandra Vargas

Katushka Cuellar

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The Role of Sex Steroids, Sex Hormone-binding Globulin and Leptin in the Development of Pubertal Gynecomastia and its Persistence into Adulthood

Zdravka Petrova Todorova

Blagomir Nikolaev Zdravkov

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Evaluation of Muscle Mass and Strength in Children and Adolescents with Disorders of Sex Development

Kürşat Çetin

Zeynep Donbaloğlu

Yasemin Funda Bahar

Güngör Karagüzel

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Review

Transition of Care in X-Linked Hypophosphatemic Rickets: From Pediatric to Adult Practice- A Narrative Review

Ayse Kubat Uzum

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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

Melatonin Use in a School-aged Boy with Obesity Born to a Mother with Type 2 Diabetes

Akihiro Nakamura

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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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