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Diseases

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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Tests & Diagnosis

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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.[1]
Last updated: 12/7/2012

References
  1. 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.


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.