Conditions / Genetic

primary ovarian insufficiency 16

info ยท Genetic

A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BN

A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25.

Signs and symptoms

  • Reduced antral follicle count
  • Premature ovarian insufficiency
  • Elevated circulating follicle stimulating hormone level
  • Decreased serum estradiol