The Evaluation of Cases with Y-Chromosome Gonadal Dysgenesis: Clinical Experience over 18 Years

BERBEROĞLU M., ŞIKLAR Z.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.10, sa.1, ss.30-37, 2018 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jcrpe.4826
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.30-37
  • Anahtar Kelimeler: Gonadal dysgnesis, 46,XY, 45,X/46,XY, SEX DEVELOPMENT, TUMOR RISK, DISORDERS, 46,XY, MUTATION, GENE
  • Ankara Üniversitesi Adresli: Evet

Özet

Objective: Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of sexual development (DSD) which results from underdeveloped testis and may exhibit heterogenous symptoms. These patients are phenotypically classified into two groups - complete and partial, and their karyotypic description is either 46,XY GD or 45,X/46,XY GD. In this study; we aimed to evaluate the characteristics of cases with Y-chromosome GD.