GTR Home > Conditions/Phenotypes > Pure gonadal dysgenesis 46,XY


46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias with or without chordee, dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to presence of a fully developed uterus and fallopian tubes. 46,XY complete gonadal dysgenesis (46,XY CGD) is characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped (”streak”) gonads, no sperm production, and presence of normal müllerian structures. [from GeneReviews]

Available tests

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Clinical tests (1 available)

Cytogenetics Tests

Clinical features

  • Primary amenorrhea
  • Hypoplasia of the fallopian tube
  • Hypoplasia of the uterus
  • Gonadoblastoma
  • Gonadal dysgenesis, male
  • Abnormality of the epididymis
  • Streak ovary
  • Sex reversal
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Go to complete MedGen record for Pure gonadal dysgenesis 46,XY

Suggested reading

  • GeneReviews
    46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

Clinical resources

Practice guidelines

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