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Genetics Home Reference: your guide to understanding genetic conditions
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Y chromosome infertility

Reviewed January 2009

What is Y chromosome infertility?

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.

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; most men with Y chromosome infertility have some sperm cells in the testes that can be extracted for this purpose. The most severely affected men do not have any mature sperm cells in the testes. This form of Y chromosome infertility is called Sertoli cell-only syndrome.

Men with Y chromosome infertility usually do not have any other signs or symptoms. Occasionally they may have unusually small testes or undescended testes (cryptorchidism).

How common is Y chromosome infertility?

Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 males of all ethnic groups. This condition accounts for between 5 percent and 10 percent of cases of azoospermia or severe oligospermia.

What are the genetic changes related to Y chromosome infertility?

As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Because only males have the Y chromosome, the genes on this chromosome tend to be involved in male sex determination and development.

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.

Deletions in the AZF regions may affect several genes. The missing genetic material likely prevents production of a number of proteins needed for normal sperm cell development, resulting in Y chromosome infertility.

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. The USP9Y gene provides instructions for making a protein called ubiquitin-specific protease 9. A small number of individuals with Y chromosome infertility have deletions of all or part of the USP9Y gene, while other genes in the AZF regions are unaffected. Deletions in the USP9Y gene prevent the production of ubiquitin-specific protease 9 or result in the production of an abnormally short, nonfunctional protein. The absence of functional ubiquitin-specific protease 9 impairs the production of sperm cells, resulting in Y chromosome infertility.

Related Chromosome(s)

Changes involving this chromosome are associated with Y chromosome infertility.

  • Y chromosome

Related Gene(s)

Changes in this gene are associated with Y chromosome infertility.

  • USP9Y

Can Y chromosome infertility be inherited?

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. This form of inheritance is called Y-linked. Daughters, who do not inherit the Y chromosome, are not affected.

Where can I find information about diagnosis or management of Y chromosome infertility?

These resources address the diagnosis or management of Y chromosome infertility and may include treatment providers.

  • Gene Review: Y Chromosome Infertility (http://www.ncbi.nlm.nih.gov/books/NBK1339)
  • Genetic Testing Registry: Spermatogenic failure, Y-linked, 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1839073)
  • Genetic Testing Registry: Spermatogenic failure, Y-linked 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1839071)
  • MedlinePlus Encyclopedia: Semen Analysis (http://www.nlm.nih.gov/medlineplus/ency/article/003627.htm)

You might also find information on the diagnosis or management of Y chromosome infertility in Educational resources (http://www.ghr.nlm.nih.gov/condition/y-chromosome-infertility/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/y-chromosome-infertility/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Y chromosome infertility?

You may find the following resources about Y chromosome infertility helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Y chromosome infertility?

  • spermatogenic failure, Y-linked
  • Y chromosome-related azoospermia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Y chromosome infertility?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Y chromosome infertility?

azoospermia ; cell ; chromosome ; cryptorchidism ; gene ; infertility ; inherit ; inheritance ; protease ; protein ; sex chromosomes ; sex determination ; sperm ; syndrome ; testes ; ubiquitin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Clementini E, Palka C, Iezzi I, Stuppia L, Guanciali-Franchi P, Tiboni GM. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod. 2005 Feb;20(2):437-42. Epub 2004 Nov 26. (http://www.ncbi.nlm.nih.gov/pubmed/15567875?dopt=Abstract)
  • Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, Lenzi A, Foresta C. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab. 2007 Mar;92(3):762-70. Epub 2007 Jan 9. (http://www.ncbi.nlm.nih.gov/pubmed/17213277?dopt=Abstract)
  • Gene Review: Y Chromosome Infertility (http://www.ncbi.nlm.nih.gov/books/NBK1339)
  • Krausz C, Degl'Innocenti S, Nuti F, Morelli A, Felici F, Sansone M, Varriale G, Forti G. Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Hum Mol Genet. 2006 Sep 15;15(18):2673-81. Epub 2006 Aug 7. (http://www.ncbi.nlm.nih.gov/pubmed/16893908?dopt=Abstract)
  • Li Z, Haines CJ, Han Y. "Micro-deletions" of the human Y chromosome and their relationship with male infertility. J Genet Genomics. 2008 Apr;35(4):193-9. doi: 10.1016/S1673-8527(08)60027-2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18439975?dopt=Abstract)
  • Marchina E, Imperadori L, Speziani M, Omodei U, Tombesi S, Barlati S. Chromosome abnormalities and Yq microdeletions in infertile italian couples referred for assisted reproductive technique. Sex Dev. 2007;1(6):347-52. doi: 10.1159/000111766. Epub 2008 Jan 18. (http://www.ncbi.nlm.nih.gov/pubmed/18391546?dopt=Abstract)
  • Mau Kai C, Juul A, McElreavey K, Ottesen AM, Garn ID, Main KM, Loft A, Jørgensen N, Skakkebaek NE, Andersen AN, Rajpert-De Meyts E. Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number. Hum Reprod. 2008 Jul;23(7):1669-78. doi: 10.1093/humrep/den124. Epub 2008 Apr 25. (http://www.ncbi.nlm.nih.gov/pubmed/18440997?dopt=Abstract)
  • Oates RD. The genetic basis of male reproductive failure. Urol Clin North Am. 2008 May;35(2):257-70, ix. doi: 10.1016/j.ucl.2008.01.015. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18423246?dopt=Abstract)
  • Rodovalho RG, Arruda JT, Moura KK. Tracking microdeletions of the AZF region in a patrilineal line of infertile men. Genet Mol Res. 2008 Jul 8;7(3):614-22. (http://www.ncbi.nlm.nih.gov/pubmed/18752188?dopt=Abstract)
  • Sadeghi-Nejad H, Farrokhi F. Genetics of azoospermia: current knowledge, clinical implications, and future directions. Part II: Y chromosome microdeletions. Urol J. 2007 Fall;4(4):192-206. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18270942?dopt=Abstract)
  • Tyler-Smith C. An evolutionary perspective on Y-chromosomal variation and male infertility. Int J Androl. 2008 Aug;31(4):376-82. doi: 10.1111/j.1365-2605.2008.00889.x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18399979?dopt=Abstract)
  • Vogt PH, Falcao CL, Hanstein R, Zimmer J. The AZF proteins. Int J Androl. 2008 Aug;31(4):383-94. doi: 10.1111/j.1365-2605.2008.00890.x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18462373?dopt=Abstract)
  • Vogt PH. Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis. Reprod Biomed Online. 2005 Jan;10(1):81-93. (http://www.ncbi.nlm.nih.gov/pubmed/15705299?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2009
Published: November 24, 2014