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Genetic and Rare Diseases Information Center (GARD)

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Y chromosome infertility


Other Names for this Disease

  • DAZ
  • Deleted in azoospermia
  • Male sterility due to Y-chromosome deletions
  • Y chromosome microdeletions
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. This condition accounts for between 5 percent and 10 percent of cases of azoospermia or severe oligospermia. As its name suggests, this form of infertility is caused by changes in the Y chromosome, one of the sex chromosomes. Y chromosome infertility is usually caused by deletions of genetic material in regions of the Y chromosome called azoospermia factor (AZF) A, B, or C. Genes in these regions are believed to provide instructions for making proteins involved in sperm cell development, although the specific functions of these proteins are not well understood. In rare cases, changes to a single gene called USP9Y, which is located in the AZFA region of the Y chromosome, can cause Y chromosome infertility. Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. Assisted reproductive technologies may help other affected men. Because Y chromosome infertility impedes the ability to father children, this condition is usually caused by new deletions on the Y chromosome and occurs in men with no history of the disorder in their family. When men with Y chromosome infertility do father children, either naturally or with the aid of assisted reproductive technologies, they pass on the genetic changes on the Y chromosome to all their sons. As a result, the sons will also have Y chromosome infertility.[1]
Last updated: 3/7/2013

References

  1. Y chromosome infertility. Genetics Home Reference (GHR). January 2009; http://ghr.nlm.nih.gov/condition/y-chromosome-infertility. Accessed 3/7/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Y chromosome infertility. This website is maintained by the National Library of Medicine.

In Depth Information

  • The 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Y chromosome infertility. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • DAZ
  • Deleted in azoospermia
  • Male sterility due to Y-chromosome deletions
  • Y chromosome microdeletions
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.