Deafness goiter stippled epiphyses

Deafness Goiter Stippled Epiphyses Syndrome (DGSES), also known as Pendred Syndrome, is a genetic disorder that affects various parts of the body, including the thyroid gland, ears, and bones. This condition is characterized by the triad of hearing loss, the presence of a goiter (an enlarged thyroid gland), and stippled epiphyses, which are small, dot-like calcifications in the growing ends of bones visible on X-ray.

Causes

DGSES is primarily caused by mutations in the SLC26A4 gene, which plays a crucial role in the development and function of the inner ear and thyroid gland. These mutations are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition.

Symptoms

The symptoms of DGSES can vary widely among individuals but commonly include:

• Sensorineural Deafness: This is often present from birth or develops in early childhood. It is caused by abnormalities in the inner ear.
• Goiter: An enlargement of the thyroid gland, which may develop during adolescence or adulthood. Despite the goiter, thyroid function is often normal.
• Stippled Epiphyses: These are detected through X-ray and are indicative of abnormal bone growth.

Other symptoms may include balance problems due to vestibular dysfunction and, in some cases, mild to moderate intellectual disability.

Diagnosis

Diagnosis of DGSES involves a combination of clinical evaluation, imaging studies, and genetic testing. Audiological tests are used to assess hearing loss. Imaging studies, such as X-rays, can reveal stippled epiphyses, and ultrasound may be used to detect goiter. Genetic testing can confirm mutations in the SLC26A4 gene.

Treatment

There is no cure for DGSES, but treatment focuses on managing symptoms and supporting the individual's quality of life. This may include:

• Use of hearing aids or cochlear implants for hearing loss
• Regular monitoring and potential treatment of thyroid function
• Physical therapy to address any skeletal abnormalities

Prognosis

The prognosis for individuals with DGSES varies. While hearing loss and goiter can significantly impact quality of life, with appropriate management, individuals can lead relatively normal lives. Early intervention, particularly for hearing loss, is crucial for optimal outcomes.

See Also

• Genetic Disorders
• Thyroid Diseases
• Bone Diseases
• Hearing Loss