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

Summary

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

1 test is in the database for this condition. See lab offering the test.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Cytogenetics Tests

Clinical features

Help
  • Primary amenorrhea
  • Hypoplasia of the fallopian tube
  • Hypoplasia of the uterus
  • Gonadoblastoma
  • Gonadal dysgenesis, male
  • Abnormality of the epididymis
  • Streak ovary
  • Sex reversal
Show all (8)
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

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk