Clinical Characterization and Molecular Profiling by Targeted Next‐Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development

Vinod Kumar Jain; Sukanya Priyadarshini; Rajni Sharma; Anıl Kumar; Shilpa Sharma; P. Raghupathy; Ralf Werner; Olaf Hiort; Mohammed Faruq

doi:10.1111/cen.70122

March 8, 2026Clinical Endocrinology

Clinical Characterization and Molecular Profiling by Targeted Next‐Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development

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Key Points

The aim is to identify the molecular underpinnings of 46,XY differences in sex development (DSD) in a large Indian cohort.
Utilized Sanger sequencing and next-generation sequencing (NGS)
Analyzed genetic data from individuals with 46,XY DSD
Identified implicated genes associated with DSD
Molecular diagnosis achieved in 46% of the cohort
SRD5A2, AR, and NR5A1 genes frequently implicated
Findings highlight potential genetic targets for intervention

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Implication

Clinical characterization reveals molecular diagnosis in 46% of individuals with 46,XY DSD, suggesting targeted interventions could improve outcomes.

Abstract

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.

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Cite This Study

Jain et al. (2026) studied this question.

synapsesocial.com/papers/69b2577f96eeacc4fcec633d https://doi.org/10.1111/cen.70122

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Clinical Characterization and Molecular Profiling by Targeted Next‐Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Clinical Characterization and Molecular Profiling by Targeted Next‐Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex Development

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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