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Background/Objective <p>Congenital profound sensorineural hearing loss (SNHL) is a major cause of childhood disability, particularly in regions with high rates of consanguinity where autosomal recessive inheritance is common. This study aimed to evaluate the association between parental consanguinity and congenital profound SNHL in children presenting to a tertiary care hospital in Pakistan.</p> Methods <p>A retrospective cross-sectional review was conducted at the Department of Otolaryngology, Rawalpindi Teaching Hospital, Pakistan. Medical records of patients aged 3–45 years diagnosed with congenital SNHL between January 2021 and June 2025 were examined. Demographic and audiological data were extracted, and parental consanguinity was classified as present or absent. Associations were analysed using the chi-square test and multivariable logistic regression adjusting for age and gender. An ordinal logistic regression model was also applied to evaluate hearing-loss severity.</p> Results <p>Of 200 patients, 138 (69%) were offspring of consanguineous parents. Profound hearing loss was observed in 61.5% of cases, severe in 12.5%, and no response in 26%. Although consanguinity was common, it was not an independent predictor of greater audiometric severity after adjusting for age and gender (adjusted OR = 1.36; 95% CI 0.50–3.66; <i>p</i> = 0.55). Ordinal regression yielded similar findings (OR = 1.57; 95% CI 0.70–3.50; <i>p</i> = 0.28).</p> Conclusions <p>Parental consanguinity remains a significant contributor to congenital SNHL in Pakistan. While severity differences were not statistically significant, the high prevalence among consanguineous families highlights the need to strengthen genetic counselling, newborn hearing screening, and premarital or preconception carrier programs within existing national health initiatives to reduce the burden of hereditary hearing loss.</p>

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Consanguinity as a Risk Factor for Congenital Profound Sensorineural Hearing Loss: Evidence from a Retrospective Cohort

  • 期刊论文

  • 发表日期：

    2025年11月29日

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  • Sundas Masood,
  • Sadia Chaudhry,
  • Javeria Awan,
  • Haitham Akaash,
  • Fatima Shahid,
  • Abdur Rehman

摘要

Background/Objective

Congenital profound sensorineural hearing loss (SNHL) is a major cause of childhood disability, particularly in regions with high rates of consanguinity where autosomal recessive inheritance is common. This study aimed to evaluate the association between parental consanguinity and congenital profound SNHL in children presenting to a tertiary care hospital in Pakistan.

Methods

A retrospective cross-sectional review was conducted at the Department of Otolaryngology, Rawalpindi Teaching Hospital, Pakistan. Medical records of patients aged 3–45 years diagnosed with congenital SNHL between January 2021 and June 2025 were examined. Demographic and audiological data were extracted, and parental consanguinity was classified as present or absent. Associations were analysed using the chi-square test and multivariable logistic regression adjusting for age and gender. An ordinal logistic regression model was also applied to evaluate hearing-loss severity.

Results

Of 200 patients, 138 (69%) were offspring of consanguineous parents. Profound hearing loss was observed in 61.5% of cases, severe in 12.5%, and no response in 26%. Although consanguinity was common, it was not an independent predictor of greater audiometric severity after adjusting for age and gender (adjusted OR = 1.36; 95% CI 0.50–3.66; p = 0.55). Ordinal regression yielded similar findings (OR = 1.57; 95% CI 0.70–3.50; p = 0.28).

Conclusions

Parental consanguinity remains a significant contributor to congenital SNHL in Pakistan. While severity differences were not statistically significant, the high prevalence among consanguineous families highlights the need to strengthen genetic counselling, newborn hearing screening, and premarital or preconception carrier programs within existing national health initiatives to reduce the burden of hereditary hearing loss.