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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Sensorineural deafness and male infertility

Reviewed April 2010

What is sensorineural deafness and male infertility?

Sensorineural deafness and male infertility is a condition characterized by hearing loss and an inability to father children. Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Males with this condition produce sperm that have decreased movement (motility), causing affected males to be infertile.

How common is sensorineural deafness and male infertility?

The prevalence of sensorineural deafness and male infertility is unknown.

What are the genetic changes related to sensorineural deafness and male infertility?

Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of a particular gene on chromosome 15, the STRC gene, is responsible for hearing loss in affected individuals. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for the sperm abnormalities and infertility in affected males. Researchers are working to determine how the loss of additional genes in the deleted region affects people with sensorineural deafness and male infertility.

Related Chromosome(s)

Changes involving this chromosome are associated with sensorineural deafness and male infertility.

  • chromosome 15

Related Gene(s)

Changes in these genes are associated with sensorineural deafness and male infertility.

  • CATSPER2
  • STRC

Can sensorineural deafness and male infertility be inherited?

Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with sensorineural deafness and male infertility each carry one copy of the chromosome 15 deletion, but they do not show symptoms of the condition.

Males with two chromosome 15 deletions in each cell have sensorineural deafness and infertility. Females with two chromosome 15 deletions in each cell have sensorineural deafness as their only symptom because the CATSPER2 gene deletions affect sperm function, and women do not produce sperm.

Where can I find information about diagnosis or management of sensorineural deafness and male infertility?

These resources address the diagnosis or management of sensorineural deafness and male infertility and may include treatment providers.

  • Cleveland Clinic: Male Infertility (http://my.clevelandclinic.org/urology-kidney/diseases-conditions/male-infertility.aspx)
  • Gene Review: CATSPER-Related Male Infertility (http://www.ncbi.nlm.nih.gov/books/NBK22925)
  • Genetic Testing Registry: Deafness, sensorineural, and male infertility (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1970187)
  • RESOLVE: The National Infertility Association: Semen Analysis (http://www.resolve.org/about-infertility/male-workup/the-semen-analysis.html)

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

You may find the following resources about sensorineural deafness and male 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 sensorineural deafness and male infertility?

  • chromosome 15q15.3 deletion syndrome
  • deafness-infertility syndrome
  • DIS

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 sensorineural deafness and male infertility?

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

What glossary definitions help with understanding sensorineural deafness and male infertility?

autosomal ; autosomal recessive ; cell ; chromosome ; deletion ; gene ; infertile ; infertility ; inherited ; prevalence ; recessive ; sensorineural ; sensorineural hearing loss ; sperm ; symptom ; syndrome

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

References

  • Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS. CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet. 2003 Jul;11(7):497-502. (http://www.ncbi.nlm.nih.gov/pubmed/12825070?dopt=Abstract)
  • Gene Review: CATSPER-Related Male Infertility (http://www.ncbi.nlm.nih.gov/books/NBK22925)
  • Quill TA, Sugden SA, Rossi KL, Doolittle LK, Hammer RE, Garbers DL. Hyperactivated sperm motility driven by CatSper2 is required for fertilization. Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):14869-74. Epub 2003 Dec 1. (http://www.ncbi.nlm.nih.gov/pubmed/14657366?dopt=Abstract)
  • Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet. 2007 Apr;44(4):233-40. Epub 2006 Nov 10. Erratum in: J Med Genet. 2007 Aug;44(8):544. Lohr, Naomi J [added]. (http://www.ncbi.nlm.nih.gov/pubmed/17098888?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: April 2010
Published: September 15, 2014