Original Article

Birth Sizes of Neonates with Congenital Adrenal Hyperplasia Secondary to 21-Hydroxylase Deficiency
  • Helmuth G. Dörr
  • Theresa Penger
  • Andrea Albrecht
  • Michaela Marx
  • Thomas M.K. Völkl
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0149 PMID:30178749
Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort
  • Maria Sol Touzon
  • Natalia Perez Garrido
  • Roxana Marino
  • Pablo Ramirez
  • Mariana Costanzo
  • Gabriela Guercio
  • Esperanza Berensztein
  • Marco A. Rivarola
  • Alicia Belgorosky
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.0185 PMID:30251955
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
Factors Influencing Serum Vitamin D Concentration in Turkish Children Residing in İzmir: A Single-Center Experience
  • Pamir Gülez
  • Hüseyin Anıl Korkmaz
  • Dilek Özkök
  • Demet Can
  • Behzat Özkan
J Clin Res Pediatr Endocrinol 2015; 7: 294-300 DOI: 10.4274/jcrpe.1938 PMID:26777040

Case Report

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin
  • Assimina Galli Tsinopoulou
  • Anastasios Serbis
  • Eleni P. Kotanidou
  • Eleni Litou
  • Vaia Dokousli
  • Konstantina Mouzaki
  • Pavlos Fanis
  • Vassos Neocleous
  • Nicos Skordis
J Clin Res Pediatr Endocrinol 2018; 10: 74-78 DOI: 10.4274/jcrpe.4829 PMID:28739554
A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect
  • Tülay Güran
  • Gözde Yeşil
  • Ömer Güran
  • Suna Cesur
  • Oktav Bosnalı
  • Ayşenur Celayir
  • Sevilay Topçuoğlu
  • Abdullah Bereket
J Clin Res Pediatr Endocrinol 2012; 4: 151-153 DOI: 10.4274/Jcrpe.685 PMID:22664361
An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation
  • Gönül Çatlı
  • Caner Alparslan
  • P. Şule Can
  • Sinem Akbay
  • Sefa Kelekçi
  • Tahir Atik
  • Berk Özyılmaz
  • Bumin N. Dündar
J Clin Res Pediatr Endocrinol 2015; 7: 159-162 DOI: 10.4274/jcrpe.1919 PMID:26316442
Transverse Testicular Ectopia: A Rare Presentation with Persistent Müllerian Duct Syndrome
  • Onur Telli
  • Mehmet İlker Gökçe
  • Perviz Hacıyev
  • Tarkan Soygür
  • Berk Burgu
J Clin Res Pediatr Endocrinol 2014; 6: 180-182 DOI: 10.4274/jcrpe.1479 PMID:25241614
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
An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report
  • Dulika Sumathipala
  • Thilini Gamage
  • Bandula Wijesiriwardena
  • Rohan W. Jayasekara
  • Vajira H.W. Dissanayake
J Clin Res Pediatr Endocrinol 2012; 4: 223-225 DOI: 10.4274/Jcrpe.764 PMID:23032147
Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene
  • Ayfer Alikaşifoğlu
  • Doğuş Vurallı
  • Olaf Hiort
  • Nazlı Gönç
  • Alev Özön
  • Nurgün Kandemir
J Clin Res Pediatr Endocrinol 2015; 7: 249-252 DOI: 10.4274/jcrpe.2069 PMID:26831562
Pituitary Adenoma Apoplexy in an Adolescent: A Case Report and Review of the Literature
  • Hero Zijlker
  • Sebastian Schagen
  • Jan Maarten Wit
  • Nienke Biermasz
  • Wouter van Furth
  • Wilma Oostdijk
J Clin Res Pediatr Endocrinol 2017; 9: 265-273 DOI: 10.4274/jcrpe.4420 PMID:28588003
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
Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype
  • Özge Yüce
  • Esra Döğer
  • Nurullah Çelik
  • Hamdi Cihan Emeksiz
  • Mahmut Orhun Çamurdan
  • Aysun Bideci
  • Peyami Cinaz
J Clin Res Pediatr Endocrinol 2015; 7: 336-339 DOI: 10.4274/jcrpe.2022 PMID:26777047
A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population
  • Bahar Özcabı
  • Feride Tahmiscioğlu Bucak
  • Sevinç Jaferova
  • Çiğdem Oruç
  • Amra Adrovic
  • Serdar Ceylaner
  • Oya Ercan
  • Olcay Evliyaoğlu
J Clin Res Pediatr Endocrinol 2016; 8: 484-489 DOI: 10.4274/jcrpe.3128 PMID:27353739

Review

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia
  • Klára Rozenková
  • Maria Güemes
  • Pratik Shah
  • Khalid Hussain
J Clin Res Pediatr Endocrinol 2015; 7: 86-97 DOI: 10.4274/jcrpe.1891 PMID:26316429

Original Research

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
Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency
  • Erdal Eren
  • Tuba Edgünlü
  • Emre Asut
  • Sevim Karakaş Çelik
J Clin Res Pediatr Endocrinol 2016; 8: 218-223 DOI: 10.4274/jcrpe.2495 PMID:26761946
The Association between Serum 25-Hydroxy Vitamin D Level and Urine Cathelicidin in Children with a Urinary Tract Infection
  • Duygu Övünç Hacıhamdioğlu
  • Demet Altun
  • Bülent Hacıhamdioğlu
  • Ferhat Çekmez
  • Gökhan Aydemir
  • Mustafa Kul
  • Tuba Müftüoğlu
  • Selami Süleymanoğlu
  • Ferhan Karademir
J Clin Res Pediatr Endocrinol 2016; 8: 325-329 DOI: 10.4274/jcrpe.2563 PMID:27180947

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

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