Clinical Characterization and Molecular Profiling by Targeted Next‐Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development
Sanger sequencing followed by NGS could provide molecular diagnosis in 46% of this Indian cohort with 46,XY DSD. SRD5A2, AR and NR5A1 were the most frequently implicated genes.
Authors
- Rajni Sharma
- Olaf Hiort (ORCID: https://orcid.org/0000-0001-7490-4983)
- Anıl Kumar (ORCID: https://orcid.org/0000-0002-7231-0572)
- Vinod Kumar Jain (ORCID: https://orcid.org/0000-0002-5725-4998)
- Sukanya Priyadarshini (ORCID: https://orcid.org/0000-0002-9352-5492)
- P. Raghupathy (ORCID: https://orcid.org/0000-0002-7448-586X)
- Shilpa Sharma
- Ralf Werner
- Mohammed Faruq
Institutions
- Institute of Genomics and Integrative Biology (IN)
- Indira Gandhi Institute of Child Health (IN)
- All India Institute of Medical Sciences (IN)
- University of Lübeck (DE)
Publication Details
- Journal
- Clinical Endocrinology
- Published
- 2026-03-08
- DOI
- https://doi.org/10.1111/cen.70122
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00