autosomal recessive nonsyndromic hearing loss 32

Autosomal recessive nonsyndromic hearing loss 32 is a form of inherited deafness that presents with prelingual, severe to profound, and stable hearing loss, affecting individuals from an early age. The condition results from pathogenic variants in the CDC14A gene. Although the primary impact is on hearing, some affected males may also experience reproductive issues. Prevalence data are not clearly established, and current understanding is based on reported cases in affected families.

The core clinical feature of this condition is early-onset, severe to profound hearing loss that is present from infancy. In addition to hearing impairment, abnormal sperm morphology is a consistent finding, and a significant proportion of affected males may experience infertility. That not all individuals experience all features, and severity varies considerably between cases.

This condition is caused by pathogenic variants in the CDC14A gene. CDC14A plays a role in cellular processes that are essential for normal hearing, and disruption of its function leads to the clinical manifestations observed. It is inherited in an autosomal recessive pattern, meaning that an affected individual has received a mutated copy of the gene from each parent. This inheritance pattern also implies that each sibling of an affected individual has a 25% chance of being affected when both parents are carriers.

Currently, management of autosomal recessive nonsyndromic hearing loss 32 focuses on supportive care and symptom management. While there are no FDA-approved treatments specifically for this condition, interventions such as hearing aids or cochlear implants may help improve communication and quality of life. In cases where males experience reproductive challenges, addressing infertility may involve consultation with appropriate specialists. Patients are encouraged to discuss individualized treatment options with their healthcare team, and genetic counseling is recommended for affected families.

The hearing loss seen in this condition is reported to be stable over time, although the overall impact on quality of life can vary depending on the severity of the impairment and access to early intervention services. Reproductive issues in males, such as abnormal sperm morphology, may also contribute to clinical variability. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with genetic counselors and specialists familiar with this condition for further guidance on management and family planning.