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Deafness-infertility syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Deafness-infertility syndrome

Deafness-infertility syndrome is a genetic condition characterized by moderate to severe sensorineural hearing loss and male infertility due to reduced sperm motility.

Overview

Deafness-infertility syndrome is a condition characterized by hearing loss and difficulty conceiving children (a condition called infertility). 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. Individuals with this condition produce sperm that have decreased movement (motility). As a result, they cannot conceive without assisted reproductive technologies.

Frequency

The prevalence of deafness-infertility syndrome is unknown. It is likely underdiagnosed in people with hearing loss.

Causes

Deafness-infertility syndrome is caused by a deletion on the long (q) arm of chromosome 15. The signs and symptoms of deafness-infertility syndrome 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 two specific genes on chromosome 15 is responsible for the main features of this condition:

  • The loss of the STRC gene, which plays a role in the generation of nerve impulses that get interpreted as sound, is responsible for hearing loss.
  • The loss of another gene, CATSPER2, which plays a role in sperm motility, is responsible for the sperm abnormalities.

Researchers are working to determine how the loss of additional genes in the deleted region affects people with deafness-infertility syndrome.

Associated Genes and Chromosomes

  • CATSPER2
  • STRC
  • Chromosome 15

Inheritance

Deafness-infertility syndrome 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 deafness-infertility syndrome each carry one copy of the chromosome 15 deletion, but they typically do not show symptoms of the condition.

Males (with one Y chromosome) who have two chromosome 15 deletions in each cell have deafness-infertility syndrome. Females (with two X chromosomes) who have two chromosome 15 deletions in each cell have sensorineural deafness as their only symptom. They do not produce sperm and so are not affected by the CATSPER2 gene deletions.

Other Names for This Condition

  • Chromosome 15q15.3 deletion syndrome
  • DIS
  • Sensorineural deafness and infertility
  • Sensorineural deafness and male infertility

Frequently Asked Questions

Diagnosis typically requires a chromosomal microarray analysis (CMA) or fluorescence in situ hybridization (FISH) to detect the deletion on the long arm of chromosome 15. Because the condition is caused by the loss of multiple genes, including STRC and CATSPER2, standard single-gene sequencing may miss the diagnosis if it does not specifically look for large deletions in this region. Genetic counseling is recommended to interpret the results and assess family risk.
The hearing loss in deafness-infertility syndrome is typically stable and non-progressive. It is usually diagnosed in early childhood as moderate to severe sensorineural hearing loss. Unlike some other genetic hearing disorders, the condition does not worsen with age, meaning that hearing aids or cochlear implants fitted in childhood generally remain effective throughout the individual's life without needing frequent adjustments for declining function.
The condition is inherited in an autosomal recessive pattern. This means an individual must inherit two copies of the chromosomal deletion, one from each parent, to have the syndrome. Parents who are carriers of the deletion usually have no symptoms. If both parents are carriers, there is a 25 percent chance with each pregnancy that the child will be affected. Genetic testing can determine carrier status for family members.
Natural conception is generally not possible due to severe asthenozoospermia, which means the sperm have significantly reduced motility. While sperm are produced, they lack the ability to swim effectively to fertilize an egg. Assisted reproductive technologies, such as intracytoplasmic sperm injection (ICSI), are required for successful conception. In ICSI, a single sperm is injected directly into an egg, bypassing the need for natural motility.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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