What question did this study set out to answer?

This research aims to understand the variations in the RSPO1 gene among patients with 46,XX DSD due to Mullerian agenesis and gonadal dysgenesis.

April 19, 2026Journal of obstetrics and gynaecology research0 citations

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Exploring the Involvement of RSPO1 Gene Variations in 46,XX DSD Patients With Mullerian Agenesis and/or Gonadal Dysgenesis—An Indian Study

RSRagitha T. S.SSSunish K. S.SDSaley Daniel

Puntos clave

This research aims to understand the variations in the RSPO1 gene among patients with 46,XX DSD due to Mullerian agenesis and gonadal dysgenesis.
Analyzed RSPO1 gene variations in patients with 46,XX DSD
Included cases with Mullerian agenesis and gonadal dysgenesis
Utilized genetic sequencing techniques for data collection
No clearly pathogenic RSPO1 variants were identified
Provided significant data on RSPO1 sequence variation in the studied population

Resumen

Although no clearly pathogenic RSPO1 variants were identified, this study contributes important data on RSPO1 sequence variation in 46,XX DSD cases involving MA and GD.

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Cite This Study

S. et al. (Wed,) studied this question.

synapsesocial.com/papers/69e47250010ef96374d8e745 https://doi.org/https://doi.org/10.1111/jog.70284

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