Case Report

46, XY Sex Development Defect due to a Novel Homozygous (splice site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report
  • Nurdan Çiftci
  • Leman Kayaş
  • Emine Çamtosun
  • Ayşehan Akıncı
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2020.2020.0249 PMID:33389920

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
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

Other

A Novel Missense Mutation in HSD17B3 Gene in Two 46,XY Siblings with Female External Gelitalia
  • Hale Tuhan
  • Ahmet Anik
  • Gönül Çatli
  • Serdar Ceylaner
  • Bumin Dündar
  • Ece Böber
  • Korcan Demir
  • Sezer Acar
  • Derya Erçal
  • Ayhan Abaci
J Clin Res Pediatr Endocrinol 2016; 8: 17-17