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

Case Report

Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene
  • Ayla Güven
  • Seher Polat
J Clin Res Pediatr Endocrinol 2017; 9: 85-90 DOI: 10.4274/jcrpe.3306 PMID:27476613
Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign
  • Emine Çamtosun
  • Zeynep Şıklar
  • Serdar Ceylaner
  • Pınar Kocaay
  • Merih Berberoğlu
J Clin Res Pediatr Endocrinol 2017; 9: 163-167 DOI: 10.4274/jcrpe.3839 PMID:28008861

Case Report

A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene
  • Eda Mengen
  • Aynur Küçükçongar Yavaş
  • S. Ahmet Uçaktürk
J Clin Res Pediatr Endocrinol 2020; 12: 206-211 DOI: 10.4274/jcrpe.galenos.2019.2019.0053 PMID:31208161

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