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Genetic and Rare Diseases Information Center (GARD)

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Swyer syndrome

Other Names for this Disease
  • 46, XY CGD
  • 46, XY complete gonadal dysgenesis
  • 46, XY pure gonadal dysgenesis
  • Gonadal dysgenesis, XY female type
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Your Question

I was born without ovaries. I have everything else that a normal woman has but I have streaks where ovaries would be. I was diagnosed when I was 15. My doctor put me on triphasil and soon after I started showing signs of puberty. None of my doctors seem to know about this condition. I am now 31. I am wondering if I should opt to have my streaks removed and if I should be on some other form of estrogen. I have very little breast development.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might Swyer syndrome be treated?

The treatment of an individual with Swyer syndrome may depend upon the specific characteristics that an affected individual has. Some individuals require surgery to repair the external genitalia and to create and/or enlarge the vagina. Hormone replacement therapy (HRT) is typically required from puberty onward and usually includes estrogen and progesterone.[1] In addition to helping with normal development of secondary sexual characteristics, HRT can also help prevent bone loss and thinning (osteoporosis) later during life.[2] Abdominal dysgenetic gonads (testes or ovaries with abnormal development) are at increased risk for gonadal tumors and should be surgically removed. Specifically, streak gonads and dysgenetic gonads are at increased risk for gonadoblastoma and should be surgically removed. Although women with Swyer syndrome are infertile, they may become pregnant and carry to term through egg donation.[1]
Last updated: 3/30/2012

Should streak gonads be removed in individuals with Swyer syndrome?

It is typically recommended that individuals with streak gonads have them surgically removed. Individuals with streak gonads are at an increased risk for gonadal tumors.[2]
Last updated: 3/30/2012