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Diseases

Genetic and Rare Diseases Information Center (GARD)

46,XX testicular disorder of sex development


Other Names for this Disease
  • 46,XX testicular DSD
  • 46,XX gonadal dysgenesis
  • XX male syndrome
  • 46, XX gonadal sex reversal
  • XX sex reversal
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Overview

46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias. Gender role and gender identity are normally reported as male.[1][2] This condition may occur if the SRY gene (which is usually found on the Y chromosome) is misplaced onto the X chromosome. This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation). Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene. In some affected people, the underlying cause is unknown. In most cases, the condition occurs sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy.[1]
Last updated: 11/3/2015

References

  1. Emmanuèle C Délot, PhD and Eric J Vilain, MD, PhD, FACMG. Nonsyndromic 46,XX Testicular Disorders of Sex Development. GeneReviews. May 2015; http://www.ncbi.nlm.nih.gov/books/NBK1416/#xxms.Clinical_Characteristics.
  2. 46,XX testicular disorder of sex development. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 46,XX testicular disorder of sex development. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 46,XX testicular disorder of sex development. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 46,XX testicular DSD
  • 46,XX gonadal dysgenesis
  • XX male syndrome
  • 46, XX gonadal sex reversal
  • XX sex reversal
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.