Conditions / Genetic

ovarian dysgenesis 3

info · Genetic

A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21.

Signs and symptoms

  • Aplasia of the ovary
  • Elevated circulating luteinizing hormone level
  • Elevated circulating follicle stimulating hormone level
  • Delayed puberty
  • Primary amenorrhea
  • Female infertility