46,XX gonadal dysgenesis

What is 46,XX gonadal dysgenesis?

46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

Other condition names

  • 46,XX complete gonadal dysgenesis
  • 46,XX ovarian dysgenesis
  • 46,XX pure gonadal dysgenesis
  • FSH-RO
  • Follicular stimulating hormone-resistant ovaries
  • Hypergonadotropic ovarian dysgenesis
  • XX female gonadal dysgenesis
  • XX-GD

Inheritance type

Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive


  • Europe: 1-9 in 100,000

Age of Onset

  • Adolescent
  • Adult
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.