SCIENTIFIC BACKGROUND

BMP15FSHRMCM9NR5A1PSMC3IP

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).

GENES

BMP15FSHRMCM9NR5A1PSMC3IP

ASSOCIATED TESTS

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