Case Report

A novel SCNN1A variation in a patient with autosomal-recessive pseudohypoaldosteronism type 1
  • Mohammed Ayed Huneif
  • Ziyad Hamad AlHazmy
  • Anas M. Shoomi
  • Mohammed A. AlGhofely
  • Humariya Heena
  • Aziza M. Mushiba
  • Abdulhamid AlSaheel
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2021.2020.0175 PMID:33829730
Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review
  • Isabel Inácio
  • Joana Serra-Caetano
  • Rita Cardoso
  • Isabel Dinis
  • Alice Mirante
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2021.2021.0174 PMID:34355878
Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine
  • Amy Seagroves
  • Heather M. Ross
  • Alaina P. Vidmar
  • Mitchell E. Geffner
  • William S. Kim
  • Darryl Hwang
  • Claudia Borzutzky
  • Nicole R. Fraga
  • Mimi S. Kim
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2021.2020.0310 PMID:34423627
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation
  • Fatma Dursun
  • Serdar Ceylaner
J Clin Res Pediatr Endocrinol 2019; 11: 196-201 DOI: 10.4274/jcrpe.galenos.2018.2018.0140 PMID:30074481
Does Pseudohypoaldosteronism Mask the Diagnosis of Congenital Adrenal Hyperplasia?
  • Sebahat Yılmaz Ağladıoğlu
  • Zehra Aycan
  • Havva Nur Peltek Kendirci
  • Nilgün Erkek
  • Veysel Nijat Baş
J Clin Res Pediatr Endocrinol 2011; 3: 219-221 DOI: 10.4274/jcrpe.369 PMID:22155467
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
  • Tuğba Kontbay
  • İhsan Turan
J Clin Res Pediatr Endocrinol 2021; 13: 362-366 DOI: 10.4274/jcrpe.galenos.2020.2020.0219 PMID:33389921

Original Research

Ambulatory Blood Pressure and Subclinical Cardiovascular Disease in Patients with Congenital Adrenal Hyperplasia: A Preliminary Report
  • Nesibe Akyürek
  • Mehmet Emre Atabek
  • Beray Selver Eklioğlu
  • Hayrullah Alp
J Clin Res Pediatr Endocrinol 2015; 7: 13-18 DOI: 10.4274/jcrpe.1658 PMID:25800471
CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children
  • Firdevs Baş
  • Hülya Kayserili
  • Feyza Darendeliler
  • Oya Uyguner
  • Hülya Günöz
  • Memnune Yüksel Apak
  • Fatmahan Atalar
  • Rüveyde Bundak
  • Robert C. Wilson
  • Maria I. New
  • Bernd Wollnik
  • Nurçin Saka
J Clin Res Pediatr Endocrinol 2009; 1: 116-128 DOI: 10.4008/jcrpe.v1i3.49 PMID:21274396

Original Article

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
  • Tülay Güran
  • Başak Tezel
  • Fatih Gürbüz
  • Beray Selver Eklioğlu
  • Nihal Hatipoğlu
  • Cengiz Kara
  • Enver Şimşek
  • Filiz Mine Çizmecioğlu
  • Alev Ozon
  • Firdevs Baş
  • Murat Aydın
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 2019; 11: 13-23 DOI: 10.4274/jcrpe.galenos.2018.2018.0117 PMID:30111524
Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
  • Helmuth G. Dörr
  • Theresa Penger
  • Andrea Albrecht
  • Michaela Marx
  • Thomas M. K. Völkl
J Clin Res Pediatr Endocrinol 2019; 11: 41-45 DOI: 10.4274/jcrpe.galenos.2018.2018.0149 PMID:30178749
Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia
  • Kotb Abbass Metwalley
  • Hekma Saad Farghaly
  • Abdelrahman Abdelhamid
J Clin Res Pediatr Endocrinol 2019; 11: 61-69 DOI: 10.4274/jcrpe.galenos.2018.2018.0153 PMID:30282618
Testicular Adrenal Rest Tumors in Patients with Congenital Adrenal Hyperplasia
  • Esra Deniz Papatya Çakır
  • Fatma Şentürk Mutlu
  • Erdal Eren
  • Aliye Özlem Paşa
  • Halil Sağlam
  • Ömer Tarım
J Clin Res Pediatr Endocrinol 2012; 4: 94-100 DOI: 10.4274/jcrpe.563 PMID:22672867
Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia
  • Şenay Savaş-Erdeve
  • Zehra Aycan
  • Semra Çetinkaya
  • Ayşe Pınar Öztürk
  • Firdevs Baş
  • Şükran Poyrazoğlu
  • Feyza Darendeliler
  • Elif Özsu
  • Zeynep Şıklar
  • Meliha Demiral
  • Edip Unal
  • Mehmet Nuri Özbek
  • Fatih Gürbüz
  • Bilgin Yüksel
  • Olcay Evliyaoğlu
  • Nesibe Akyürek
  • Merih Berberoğlu
J Clin Res Pediatr Endocrinol 2021; 13: 180-186 DOI: 10.4274/jcrpe.galenos.2020.2020.0216 PMID:33374095
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
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
  • Tülay Güran
  • Başak Tezel
  • Meltem Çakır
  • Ayşehan Akıncı
  • Zerrin Orbak
  • Mehmet Keskin
  • Beray Selver Eklioğlu
  • Alev Ozon
  • Mehmet Nuri Özbek
  • Gülay Karagüzel
  • Nihal Hatipoğlu
  • Fatih Gürbüz
  • Filiz Mine Çizmecioğlu
  • Cengiz Kara
  • Enver Şimşek
  • Firdevs Baş
  • Murat Aydın
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 2020; 12: 287-294 DOI: 10.4274/jcrpe.galenos.2020.2019.0182 PMID:32157855
Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years’ Experience and Challenges
  • Fatih Gürbüz
  • Murat Alkan
  • Gonca Çelik
  • Atıl Bişgin
  • Necmi Çekin
  • İlker Ünal
  • Ali Kemal Topaloğlu
  • Ünal Zorludemir
  • Ayşe Avcı
  • Bilgin Yüksel
J Clin Res Pediatr Endocrinol 2020; 12: 347-357 DOI: 10.4274/jcrpe.galenos.2020.2020.0009 PMID:32212580

Rapid Communication

Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India
  • Lakshmi Vasudevan
  • Rajesh Joshi
  • Dhanjit Kumar Das
  • Sudha Rao
  • Daksha Sanghavi
  • Shiny Babu
  • Parag M. Tamhankar
J Clin Res Pediatr Endocrinol 2013; 5: 121-124 DOI: 10.4274/Jcrpe.927 PMID:23748066

Case Report

A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome
  • Havva Nur Peltek Kendirci
  • Zehra Aycan
  • Semra Çetinkaya
  • Veysel Nijat Baş
  • Sebahat Yılmaz Ağladıoğlu
  • Aşan Önder
J Clin Res Pediatr Endocrinol 2012; 4: 213-215 DOI: 10.4274/Jcrpe.767 PMID:23261864
High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency
  • Mesut Parlak
  • Hamit Yaşar Ellidağ
  • Doğa Türkkahraman
J Clin Res Pediatr Endocrinol 2015; 7: 329-332 DOI: 10.4274/jcrpe.2180 PMID:26777045