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46,XX gonadal dysgenesis

Disease definition

A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals.


Classification level: Disorder
  • Synonym(s):
    • 46,XX complete gonadal dysgenesis
    • 46,XX ovarian dysgenesis
    • 46,XX pure gonadal dysgenesis
    • Hypergonadotropic ovarian dysgenesis
    • XX female gonadal dysgenesis
    • XX-GD
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or Not applicable 
  • Age of onset: Adolescent, Adult
  • ICD-10: Q99.1
  • ICD-11: LB45.1
  • OMIM: 233300  300510  614324  618078  618117  618723
  • UMLS: C0949595
  • MeSH: D023961
  • GARD: -
  • MedDRA: -

Detailed information

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.