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

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

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

A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

• Fatma Dursun
• Serdar Ceylaner

Does Pseudohypoaldosteronism Mask the Diagnosis of Congenital Adrenal Hyperplasia?

• Sebahat Yılmaz Ağladıoğlu
• Zehra Aycan
• Havva Nur Peltek Kendirci
• Nilgün Erkek
• Veysel Nijat Baş

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

• Tuğba Kontbay
• İhsan Turan

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

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

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

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

Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia

• Kotb Abbass Metwalley
• Hekma Saad Farghaly
• Abdelrahman Abdelhamid

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

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

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

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

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

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

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

High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency

• Mesut Parlak
• Hamit Yaşar Ellidağ
• Doğa Türkkahraman