GTR Home > Conditions/Phenotypes > 46,XY sex reversal, type 2


Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have a female appearance. People with this disorder have female external genitalia and a normal uterus and Fallopian tubes. However, they do not have functional gonads (ovaries or testes). Instead, they have undeveloped clumps of tissue called streak gonads. These abnormal gonads often become cancerous, so they are usually removed surgically early in life. People with Swyer syndrome are typically raised as females and have a female gender identity. Affected individuals usually begin hormone replacement therapy during adolescence to induce menstruation and development of female secondary sex characteristics such as breast enlargement and body hair. Hormone replacement therapy also helps prevent reduced bone density (osteopenia). Women with this disorder do not produce eggs, but may be able to become pregnant with a donated egg ... or embryo. [from GHR] more

Available tests

3 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2, NR0B1
    Summary: nuclear receptor subfamily 0, group B, member 1

Clinical features

  • Sex reversal

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