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, vol.10, no.1, pp.30-37, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 10 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.4274/jcrpe.4826
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.30-37
  • Keywords: Gonadal dysgnesis, 46,XY, 45,X/46,XY, SEX DEVELOPMENT, TUMOR RISK, DISORDERS, 46,XY, MUTATION, GENE
  • Ankara University Affiliated: Yes

Abstract

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.