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Genetic and Rare Diseases Information Center (GARD)

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46, XY disorders of sexual development

Other Names for this Disease
  • 46, XY DSD
  • 46, XY female
  • XY female
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Your Question

My 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? 

Our Answer

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

What are 46, XY disorders of sex development?

A 46, XY disorder of sex development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female. Infants with this condition tend to have penoscrotal hypospadias, abnormal development of the testes, and reduced to no sperm production. Some individuals with 46, XY DSD have fully to underdeveloped female reproductive organs (e.g., uterus and fallopian tubes), while others do not.[1] People with with 46, XY DSD may be raised as males or females. Treatment involves surgery and hormone replacement therapy.[1] People with 46, XY DSD are at an increased risk for gonadal tumors and benefit from regular surveillance or surgery to remove abnormally developed gonads.[1]
Last updated: 12/7/2012

What are common causes of 46, XY disorders of sex development?

Typical sex development requires multiple genes, hormones, and hormone receptors to work in concert. 46, XY disorders of sex development (DSD) are caused by either disorders of testicular development or disorders involving the male hormone, androgen. Conditions which fall within the spectrum of 46, XY DSD, include:[2]
Last updated: 12/7/2012

What kind of testing is necessary to determine the underlying cause of 46, XY disorders of sex development?

People with 46, XY disorders of sex development (DSD) benefit from having a multidisciplinary team of healthcare providers. Initial work-up involves taking a family history, pregnancy history, and a physical exam. This information, combined with chromosome test results, guides additional testing. Additional tests may include hormone measurements (e.g., LH, FSH, inhibin B, T, DHT, AMH, A, and DHEAS), imaging (e.g., ultrasound), biopsy, and genetic testing.[2]
Last updated: 12/7/2012

Where can I find doctors who are experienced in diagnosing and caring for people with 46, XY disorders of sex development?

People with 46, XY disorders of sex development (DSD) receive care from a variety of specialists. Geneticists, neonatologists, endocrinologists, gynaecologists, psychiatrists, surgeons, and social workers may be part of this team.[2] If you have not already done so, we suggest you speak with your healthcare provider regarding appropriate referrals.

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 Web page at the following link.

The following online resources can help you find a genetics professional in your community:

The following support groups may also be able to direct you to local resources and specialists:

Accord Alliance
531 Route 22 East #244
Whitehouse Station, NJ 08889
Telephone: 908-349-0534
Fax: 801-349-0534
Web site:

P.O. Box 2148
Duncan, OK 75354-2148
Web site:

Intersex Society of North America
979 Golf Course Drive #282
Rohnert Park CA 94928
Fax: 801-348-5350
Web site:

Further tips for finding experts is available on our Web site at the following link:

Last updated: 10/18/2013

  • 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; Accessed 10/22/2012.