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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

Is it possible for a patient with Swyer syndrome to get pregnant? If so, what methods should be used to ensure a successful pregnancy?

Our Answer

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

Can individuals with Swyer syndrome become pregnant?

Yes. Although women with Swyer syndrome are infertile, they may become pregnant and carry to term through egg donation and subsequent assisted reproductive technology (ART). Several successful pregnancies in patients with Swyer syndrome (approximately 15) have been described in the literature.[1][2] Through hormone management, the uterus can achieve almost normal dimensions and is able to sustain pregnancy. However, it is still unclear whether the anatomic properties of the uterus would permit normal dilatation and labor.[3] Cesarean section has thus been the method of delivery in affected women.[3] Based on reports, those with non-mosaic pure 46,XY gonadal dysgenesis do not appear to be at increased risk for adverse pregnancy outcomes other than cesarean delivery. Additional reports of pregnancy outcomes in affected individuals are needed to expand our knowledge and better define any specific risks.[1][2]
Last updated: 12/11/2012

  • Tulic I, Tulic L, Micic J. Pregnancy in patient with Swyer syndrome. Fertil. Steril. April 2011; 95(5):1789.e1-2.
  • Beth J. Plante, Marc A. Fritz. A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis. Fertil. Steril. November 2008; 90(5):2015.e1–2015.e2.
  • Creatsas G, Deligeoroglou E, Tsimaris P, Pantos K, Kreatsa M. Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. Fertil. Steril. August 2011; 96(2:e83-5.