Other Names for this Disease
- 46, XY CGD
- 46, XY complete gonadal dysgenesis
- 46, XY pure gonadal dysgenesis
- 46,XY CGD
- 46,XY complete gonadal dysgenesis
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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. In addition to helping with normal development of secondary sexual characteristics, HRT can also help prevent bone loss and thinning (osteoporosis) later during life. 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.
Last updated: 3/30/2012
- Harry Ostrer. 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis. GeneReviews. September 15, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1547/. Accessed 3/30/2012.
- Swyer syndrome. NORD. September 4, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1204/viewAbstract. Accessed 3/30/2012.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.