46, XY disorders of sexual development
Other Names for this Disease
- 46, XY DSD
- 46, XY female
- XY female
Your QuestionMy child has 46, XY DSD. She has undergone chromosome and hormone testing. What do these results mean? Who can help us understand the cause of her DSD?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What are 46, XY disorders of sex development?
- What are common causes of 46, XY disorders of sex development?
- What kind of testing is necessary to determine the underlying cause of 46, XY disorders of sex development?
- Where can I find doctors who are experienced in diagnosing and caring for people with 46, XY disorders of sex development?
- 46, XY complete gonadal dysgenesis (Swyer syndrome)
- 46 XY, partial gonadal dysgenesis (Denys-Drash syndrome, Frasier syndrome)
- Ovotesticular DSD
- Testicular regression syndrome (vanishing testes syndrome)
- Leydig cell aplaisa/hypoplasia (due to hCG/LH receptor abnormalities)
- T biosynthesis defects
- POR gene abnormality (defective 17,20-lyase activity of P450c17)
- Persistent Mullerian duct syndrome (AMH or AMH-receptor genes abnormality)
- 5 alpha-reductase type 2 deficiency
- Complete and partial androgen insensitivity syndromes
To read about different types of specialists and what they do, you can visit the following link to Harvard Medical School’s Family Health Guide:
You can find a list of directories to help you find health professionals, services, and facilities by visiting the MedlinePlus.gov Web page at the following link.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
The following support groups may also be able to direct you to local resources and specialists:
531 Route 22 East #244
Whitehouse Station, NJ 08889
Web site: http://www.accordalliance.org/
Intersex Society of North America
979 Golf Course Drive #282
Rohnert Park CA 94928
Web site: http://www.isna.org/
Further tips for finding experts is available on our Web site at the following link:
- Ostrer H. 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle: 1993-2008 May 21 [updated 2009 Sep 15]. ;
- Gönül Öçal . Current Concepts in Disorders of Sexual Development. Clin Res Pediatr Endocrinol. 2011 September; 3(3):105–114; http://www.ncbi.nlm.nih.gov/pubmed?term=PMC3184510. Accessed 10/22/2012.