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GTR Home > Conditions/Phenotypes > Deafness-infertility syndrome

Deafness-infertility syndrome

Synonyms
Deafness and male infertility
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: STRC-Related Autosomal Recessive Hearing Loss
STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2. The hearing loss is mild to moderate, congenital, bilateral, and symmetric. Mean pure tone hearing loss averages 40-50 decibels (dB) at the time of diagnosis; hearing loss is not severe to profound in children or young adults. Of note, while many newborns with STRC-HL will be identified by newborn hearing screening (NBHS), some newborns with STRC-HL will not because some screening methods may not detect milder hearing loss. Males with biallelic contiguous gene deletions involving STRC and CATSPER2 are at risk for CATSPER2-related male infertility due to morphologic sperm abnormalities that affect sperm motility. In contrast, females with contiguous gene deletions do not have related fertility issues.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Shelby Redfield
A Eliot Shearer
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Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , CATSPER2
    Summary: cation channel sperm associated 2

  • Also known as: DFNB16, STRC
    Summary: stereocilin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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