ICD-11 Codes
for 5A00.02 - Pendred syndrome

Teodor Jurukovski January 1, 1970

Fact checked by: Teodor Jurukovski

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Understanding Pendred Syndrome

Pendred syndrome (ICD-11 code 5A00.02) is a rare genetic disorder primarily characterised by congenital bilateral sensorineural hearing loss and thyroid enlargement, known as a goitre. This condition affects the inner ear's development and the thyroid gland's function. While hearing loss is typically present from birth, a goitre usually develops later in childhood or early adulthood. It is inherited in an autosomal recessive pattern.

Key Signs and Symptoms of Pendred Syndrome

The hallmark symptoms of Pendred syndrome include:

• Hearing Loss: Severe to profound sensorineural hearing loss, usually affecting both ears and present at birth. In some cases, hearing loss may develop later in infancy or childhood and can be progressive.
• Thyroid Goitre: An enlargement of the thyroid gland, typically appearing between late childhood and early adulthood. This enlargement usually does not impair thyroid function, though mild hypothyroidism can occur.
• Balance Issues: Some individuals may experience problems with balance due to dysfunction of the vestibular system in the inner ear.
• Inner Ear Abnormalities: Characteristic structural changes in the inner ear, such as an enlarged vestibular aqueduct (EVA) and an abnormally shaped cochlea (Mondini malformation), are often present.

Genetic Basis and Inheritance of Pendred Syndrome

Pendred syndrome is primarily caused by mutations in the SLC26A4 gene, which provides instructions for making the pendrin protein. This protein is crucial for transporting ions in the thyroid and inner ear. Pathogenic variants in other genes, including FOXI1 and KCNJ10, have also been identified in some cases. The condition follows an autosomal recessive inheritance pattern, meaning an individual must inherit two copies of the mutated gene, one from each parent, to be affected. Parents typically carry one normal and one mutated copy of the gene and are usually unaffected carriers.

Diagnosing Pendred Syndrome

Diagnosis of Pendred syndrome involves a combination of clinical evaluation and specific tests. Initial identification may occur through newborn hearing screenings. Further diagnostic steps can include:

• Hearing Tests: Comprehensive audiological assessments, such as otoacoustic emissions (OAE) and auditory brainstem response (ABR), to evaluate hearing function.
• Imaging Studies: CT or MRI scans of the inner ear can reveal characteristic abnormalities like enlarged vestibular aqueducts and cochlear malformations.
• Genetic Testing: Blood tests can identify mutations in genes like SLC26A4, confirming the genetic basis of the condition.
• Endocrine Evaluation: Assessment by an endocrinologist may be necessary to evaluate thyroid function, especially if a goitre is present.

Managing Pendred Syndrome

While there is no cure for Pendred syndrome, various management strategies can help address its symptoms. Treatment focuses on supporting hearing and managing thyroid function:

• Hearing Support: Hearing aids or cochlear implants are often recommended to improve hearing ability. Early intervention with communication strategies, such as sign language, is also vital.
• Thyroid Management: If hypothyroidism develops, thyroid hormone replacement therapy may be prescribed. In cases of a significantly enlarged goitre, surgical removal might be considered.
• Balance Support: Therapies may be offered to help manage balance issues.

Alternative Names for Pendred Syndrome

Pendred syndrome is also known by several other clinical and historical terms, including:

• Goitre-deafness syndrome
• Deafness with goiter
• PDS
• Autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter
• Goitre deafness