Hypergonadotropic ovarian failure can occur as a result of ovarian dysgenesis (ODG). Approximately half of primary amenorrhea cases can be attributed to XX gonadal dysgenesis. From a genetic perspective, ovarian dysgenesis is categorized into types 1 to 4, each associated with variants in specific genes:
- FSHR (ovarian dysgenesis type 1).
- BMP15 (ovarian dysgenesis type 2)
- PSMC3IP (ovarian dysgenesis type 3)
- MCM9 (ovarian dysgenesis type 4)
Additionally, variants in the NR5A1 (SF1) gene have been found to cause various ovarian anomalies. If a female karyotype appears normal, these genes can be examined through multi-gene panel sequencing using next-generation sequencing (NGS).