PENDRED SYNDROME

 is a rare genetic disorder that is named after Vaughan Pendred, the physician who first described it in 1896. It is also known as Pendred's syndrome or Pendred's disease. This condition is characterized by a combination of hearing loss and an enlarged thyroid gland (goiter).

CAUSES:

Pendred syndrome is caused by mutations in the SLC26A4 gene, which is involved in the production of a protein called pendrin.

SIGNS AND SYMPTOMS:

1. Hearing loss: Individuals with Pendred syndrome typically experience sensorineural hearing loss, which is caused by damage to the inner ear or the auditory nerve. The severity of hearing loss can vary from mild to profound and may affect one or both ears. It can be present from birth or develop gradually over time.
2. Goiter: The presence of an enlarged thyroid gland, known as a goiter, is another characteristic feature of Pendred syndrome. The goiter may be present at birth or develop during childhood or adolescence. It is usually non-cancerous (benign) and is caused by abnormalities in the development or function of the thyroid gland.
3. Vestibular abnormalities: Some individuals with Pendred syndrome may experience balance problems or dizziness due to abnormalities in the inner ear's vestibular system. These symptoms can vary in severity and may contribute to difficulties with coordination and spatial orientation.
4. Variable expressivity: Pendred syndrome can show a wide range of variability in its clinical presentation. The severity of hearing loss, the presence and size of the goiter, and other associated symptoms can vary among individuals with the condition, even within the same family.

DIAGNOSIS:

• Clinical evaluation: will look for signs of hearing loss, such as difficulty understanding speech or responding to sounds, as well as examine the thyroid gland for any enlargement or abnormalities.
• Audiological tests: include pure-tone audiometry, speech audiometry, and tympanometry.
• Imaging studies: Imaging techniques, such as computed tomography (CT) or magnetic resonance imaging (MRI), may be used to visualize the inner ear and assess its structures.
• Genetic testing: Genetic testing can help determine whether a person has two copies of the mutated gene, confirming the diagnosis of Pendred syndrome.

SOME HOMOEOPATHIC MEDICINE FOR PENDRED SYNDROME

• Calcarea carbonica: This remedy is often used for individuals with a tendency towards obesity and fair complexion. It may be considered for hearing loss associated with a sense of fullness in the ears and difficulty hearing low-pitched sounds.
• Graphites: Graphites may be indicated for individuals with hearing loss, especially if it is accompanied by ear discharge, cracking sensations in the ears, or eczema.
• Lycopodium: Lycopodium is often recommended for individuals with hearing loss and associated tinnitus (ringing in the ears). It may be useful when there is a difficulty in hearing low sounds and a tendency towards digestive issues.
• China officinalis: This remedy, also known as Cinchona, is often considered for individuals with hearing loss following a history of excessive bleeding, fluid loss, or prolonged illness. It may also be used in cases where there is a sensation of fullness or buzzing in the ears.
• Pulsatilla: Pulsatilla is a remedy often considered for individuals with hearing loss accompanied by ear pain or ear infections. It may be more suitable for those who have a mild and yielding disposition.