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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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Overview

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

References

  1. 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]. ;
  2. 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.
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Other Names for this Disease
  • 46, XY DSD
  • 46, XY female
  • XY female
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.