Original Article

Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type IA due to 6.7Kb Deletion of GH1 Gene
  • Sayan Ghosh
  • Partha Pratim Chakraborty
  • Biswabandhu Bankura
  • Animesh Maiti
  • Rajkrishna Biswas
  • Madhusudan Das
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2020.2020.0005 PMID:32936763
A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism
  • Asude Durmaz
  • Ayça Aykut
  • Tahir Atik
  • Samim Özen
  • Durdugül Ayyıldız Emecen
  • Aysun Ata
  • Esra Işık
  • Damla Gökşen
  • Özgür Çoğulu
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2021; 13: 52-60 DOI: 10.4274/jcrpe.galenos.2020.2020.0101 PMID:32936766
Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings
  • Neşe Akcan
  • Şükran Poyrazoğlu
  • Firdevs Baş
  • Rüveyde Bundak
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 2018; 10: 100-107 DOI: 10.4274/jcrpe.5121 PMID:29022558
The Role of Initial Clinical and Laboratory Findingsin Infants With Hyperthyrotropinemia to PredictTransient or Permanent Hypothyroidism
  • Tolga Ünüvar
  • Korcan Demir
  • Ayhan Abacı
  • Atilla Büyükgebiz
  • Ece Böber
J Clin Res Pediatr Endocrinol 2013; 5: 170-173 DOI: 10.4274/Jcrpe.931 PMID:24072085
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations
  • Aslı Derya Kardelen
  • Güven Toksoy
  • Firdevs Baş
  • Zehra Yavaş Abalı
  • Genco Gençay
  • Şükran Poyrazoğlu
  • Rüveyde Bundak
  • Umut Altunoğlu
  • Şahin Avcı
  • Adam Najaflı
  • Oya Uyguner
  • Birsen Karaman
  • Seher Başaran
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 2018; 10: 206-215 DOI: 10.4274/jcrpe.0032 PMID:29595516
The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
  • Sinem Yalçıntepe
  • Fatma Özgüç Çömlek
  • Hakan Gürkan
  • Selma Demir
  • Emine İkbal Atlı
  • Engin Atlı
  • Damla Eker
  • Filiz Tütüncüler Kökenli
J Clin Res Pediatr Endocrinol 2021; 13: 320-331 DOI: 10.4274/jcrpe.galenos.2021.2020.0285 PMID:33565752
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family
  • Hakan Cangül
  • Murat Doğan
  • Duran Üstek
J Clin Res Pediatr Endocrinol 2015; 7: 323-328 DOI: 10.4274/jcrpe.1920 PMID:26777044

Case Report

Congenital Goitrous Hypothyroidism, Deafness and Iodide Organification Defect in Four Siblings: Pendred or Pseudo-Pendred Syndrome?
  • Cengiz Kara
  • Mehtap Kılıç
  • Ahmet Uçaktürk
  • Murat Aydın
J Clin Res Pediatr Endocrinol 2010; 2: 81-84 DOI: 10.4274/jcrpe.v2i2.81 PMID:21274344
Dermal and Ophthalmic Findings in Pseudohypoaldosteronism
  • Sabriye Korkut
  • Emir Gökalp
  • Ahmet Özdemir
  • Selim Kurtoğlu
  • Şafak Demirtaş
  • Ülkü Gül
  • Osman Baştuğ
J Clin Res Pediatr Endocrinol 2015; 7: 155-158 DOI: 10.4274/jcrpe.1740 PMID:26316441
Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings
  • Bayram Özhan
  • Özlem Boz Anlaş
  • Bilge Sarıkepe
  • Burcu Albuz
  • Nur Semerci Gündüz
J Clin Res Pediatr Endocrinol 2017; 9: 278-282 DOI: 10.4274/jcrpe.4595 PMID:28515030

Case Reports

Cystinosis Presenting with Findings of Bartter Syndrome
  • Behzat Özkan
  • Atilla Çayır
  • Celalettin Koşan
  • Handan Alp
J Clin Res Pediatr Endocrinol 2011; 3: 101-104 DOI: 10.4274/jcrpe.v3i2.21 PMID:21750641
Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation
  • Zeynep Şıklar
  • Merih Berberoğlu
  • Maria Legendre
  • Serge Amselem
  • Olcay Evliyaoğlu
  • Bülent Hacıhamdioğlu
  • Şenay Savaş Erdeve
  • Gönül Öçal
J Clin Res Pediatr Endocrinol 2010; 2: 164-167 DOI: 10.4274/jcrpe.v2i4.164 PMID:21274317

Review

Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action
  • John W. Honour
J Clin Res Pediatr Endocrinol 2009; 1: 209-226 DOI: 10.4274/jcrpe.v1i5.209 PMID:21274298

Original Research

Management of Childhood Thyroid Nodules: Surgical and Endocrinological Findings in a Large Group of Cases
  • Emre Divarcı
  • Ülgen Çeltik
  • Zafer Dökümcü
  • Orkan Ergün
  • Geylani Özok
  • Samim Özen
  • Damla Gökşen Şimşek
  • Şükran Darcan
  • Nazan Çetingül
  • Aylin Oral
  • Yeşim Ertan
  • Bengü Demirağ
  • Ahmet Çelik
J Clin Res Pediatr Endocrinol 2017; 9: 222-228 DOI: 10.4274/jcrpe.4272 PMID:28387647
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases
  • Halil Sağlam
  • Şahin Erdöl
  • Sevil Dorum
J Clin Res Pediatr Endocrinol 2017; 9: 229-236 DOI: 10.4274/jcrpe.4549 PMID:28663156