Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study
NGS is a valuable diagnostic tool in the evaluation of 46,XY DSD, offering improved diagnostic yield. For patients without molecular diagnosis, more comprehensive genomic analyses, including noncoding regions, are required.
Authors
- Melek Yildiz
- S Poyrazoglu
- Zehra Oya Uyguner (ORCID: https://orcid.org/0000-0002-2035-4338)
- Agharza Aghayev (ORCID: https://orcid.org/0000-0001-8066-0428)
- FİRDEVS BAŞ
- Darendeliler Feyza
- Umut Altunoğlu
- Sahin Avci
- Seher Basaran
- Guven Toksoy
- Ayça Dilruba Aslanger
- Volkan Karaman
- Zehra Yavas Abali
- Birsen Karaman
Institutions
- Istanbul University (TR)
Publication Details
- Journal
- Sexual Development
- Published
- 2026-01-06
- DOI
- https://doi.org/10.1159/000550371
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00