Vandana Jain, Sukanya Priyadarshini, Rajni Sharma, Anil Kumar, Shilpa Sharma, P. Raghupathy, R. Werner, Olaf Hiort, M. Faruq
2026.3.8CLINICAL ENDOCRINOLOGY
tlooto Summary
Molecular diagnosis guides management by giving insights into the pathophysiology of sex development, reproduction, tumour formation and extragenital issues.
Abstract
46,XY differences in sex development (DSD) comprise a heterogeneous group of conditions. Molecular diagnosis guides management by giving insights into the pathophysiology of sex development, reproduction, tumour formation and extragenital issues.
Citation format
JAIN, Vandana, et al. Clinical characterization and molecular profiling by targeted next‐generation sequencing in a large indian cohort with 46,XY differences in sex development. CLINICAL ENDOCRINOLOGY, 2026, 104(6): 612–627.