Clinical Characterization and Molecular Profiling by Targeted Next‐Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development
Authors' conclusion
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.
Study context
- Population
- Children with 46,XY differences in sex development (DSD) at a tertiary hospital in India; median (IQR) age 3.8 (1.4, 10.6) years
- Participants
- 147 children
- Outcome
- Molecular diagnostic yield of Sanger sequencing (SRD5A2, AR) followed by targeted NGS
Methodological detailssingle-centre, stepwise genetic testing, targeted 155-gene NGS panel
- Single-centre
- Stepwise genetic testing
- Targeted 155-gene NGS panel
Main finding
As reported in the abstract
Molecular diagnosis achieved
Overall molecular diagnosis
68 of 147
46%
Observational data: associations, not effects.
Further findings
Provisional clinical diagnoses
- 5αR2 deficiency/AIS
- n = 83, 56.5%
- Gonadal dysgenesis
- n = 31, 21%
- Testosterone biosynthetic defect
- n = 11, 7.5%
- Others
- n = 22, 15%
Sanger sequencing of SRD5A2 and AR in clinical 5αR2 deficiency/AIS
- Pathogenic/likely pathogenic variants (of 75 tested)
- 44
Targeted NGS in remaining children
- Pathogenic/likely pathogenic variants (of 103 tested), across 12 genes
- 20
- NR5A1 (most frequent)
- 7/103
- Variants of uncertain significance (VUS) deemed possibly pathogenic
- 4
Original publication
Clinical Characterization and Molecular Profiling by Targeted Next‐Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development. Clin Endocrinol (Oxf). Published 8 March 2026. doi:10.
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