This review summarizes research on the early diagnosis of ovarian insufficiency, emphasizing hormonal, genetic, and imaging biomarkers. It compares diagnostic approaches—ultrasound, hormonal assays, and genetic screening—to address limitations in accuracy and integration. Studies using hormonal tests, whole-exome sequencing, and imaging were systematically analyzed. Elevated follicle-stimulating hormone (FSH) and reduced anti-Müllerian hormone (AMH) levels showed strong diagnostic reliability, with AMH offering greater predictive value. Genetic testing identified pathogenic variants in up to 63% of cases, revealing polygenic influences and novel mutations, though interpretation remains complex. Ultrasound findings correlated with hormonal markers but lacked uniform diagnostic criteria. Emerging biomarkers, such as microRNAs and cell-free mitochondrial DNA, showed promise for noninvasive detection but need further validation. Combining hormonal, genetic, and imaging data improved diagnostic accuracy and individualized care. However, standardized diagnostic protocols and longitudinal outcome data are still insufficient, highlighting the need for harmonized diagnostic frameworks.

ovarian insufficiency, AMH, FSH, genetic mutations, ultrasound, biomarkers, diagnosis

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