Hearing Loss

Hearing loss (deafness) is one of the most common birth defects. It occurs in 3/1000 of newborn babies. Inherited genetic defects are the cause of approximately 60% of hearing loss in infants. Inherited genetic defects can occur at any stage of a person's life, especially during infancy.

Hearing losses are divided into two different groups as syndromic and non-syndromic hearing losses.

Non-syndromic hearing loss accounts for approximately 70% of hereditary hearing loss. Defects in autosomal recessive genes account for approximately 80%, and defects in autosomal dominant genes account for 15-20%. A few are sex-linked (X-linked) and mitochondrial inherited genetic defects.

Syndromic hearing loss is hearing loss accompanied by congenital defects and anomalies. 15%-30% of inherited hearing disorders are syndromic. More than 400 syndromes are known to include hearing impairment. The main causes of syndromic hearing loss are:

• Chromosomal diseases
• Mutations in genes (defect)
• Multifactorial effects (multifactorial)

Genetic Approach

Patients diagnosed with hearing loss (especially in infancy and early childhood) should be evaluated by a Medical Genetics physician and receive genetic counseling.

Detection of hereditary genetic defects in the patient;

• Establishing the cause
• Screening of risky individuals in the family
• It is important for disease prevention.

Risky individuals with a family history of hearing loss can be offered the option of diagnosis in the womb or preimplantation genetic diagnosis.