FSHR Mutations in Primary Ovarian Insufficiency: A Pilot Study from Southern China
This study aims to identify novel FSHR mutations in primary ovarian insufficiency (POI) patients from Southern China through whole-exome sequencing. Key goals include:1) Characterizing the mutation spectrum of FSHR in this population;2) Assessing the functional impact of identified variants on receptor structure and signaling;3) Comparing mutation prevalence with global cohorts to identify regional genetic patterns.The findings will inform population-specific diagnostic strategies and therapeutic development.