Expert Reviewed By: Dr. Brandon Colby MD
Understanding Lingual Thyroid
Lingual thyroid is a rare medical condition characterized by the presence of thyroid tissue at the base of the tongue. This abnormality occurs when the thyroid gland fails to descend to its normal position during embryonic development. As a result, individuals with lingual thyroid may experience symptoms such as difficulty breathing, swallowing, or speaking. In some cases, lingual thyroid can also lead to hypothyroidism, a condition where the thyroid gland does not produce enough hormones to meet the body's needs.
Diagnosing Lingual Thyroid
Diagnosing lingual thyroid can be challenging due to its rarity and the nonspecific nature of its symptoms. However, a combination of clinical examination, imaging studies, and laboratory tests can help confirm the diagnosis. In a case report of a 12-year-old with hypothyroidism and lingual thyroid, the authors highlighted the importance of a thorough evaluation, including endoscopic examination and thyroid function tests.
Imaging studies such as ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) can also provide valuable information about the size, location, and vascularity of the ectopic thyroid tissue. In some cases, a radionuclide thyroid scan may be performed to assess the function of the lingual thyroid and determine if there is any normally functioning thyroid tissue elsewhere in the body.
Genetic Testing and Lingual Thyroid
While the exact cause of lingual thyroid remains unclear, genetic factors may play a role in its development. Genetic testing can be helpful in identifying potential underlying genetic abnormalities and guiding treatment decisions for individuals with lingual thyroid.
Identifying Genetic Mutations
Research has shown that certain genetic mutations can be associated with thyroid cancer, which may develop in ectopic thyroid tissue, including lingual thyroid. A review of common gene mutations in thyroid cancer highlights the importance of their preoperative detection in guiding treatment decisions. These genetic changes can be identified through molecular testing, which analyzes the DNA of the thyroid tissue to detect specific mutations.
Guiding Treatment Decisions
Genetic testing can provide valuable information to help guide treatment decisions for individuals with lingual thyroid. For example, the presence of certain genetic mutations may influence the choice of surgical approach or the need for additional therapies, such as radioactive iodine ablation or hormone replacement therapy.
In the case report mentioned earlier, the 12-year-old patient with hypothyroidism and lingual thyroid was treated with endoscopic removal of the ectopic thyroid tissue and hormone replacement therapy. In another case presentation, a 35-year-old woman with lingual thyroid was treated with transoral excision and cauterization of the ectopic tissue. Genetic testing could potentially help identify patients who may benefit from a specific treatment approach based on their unique genetic profile.
Monitoring for Thyroid Cancer
As mentioned earlier, individuals with lingual thyroid may be at an increased risk of developing thyroid cancer. Genetic testing can be used to monitor these individuals for the presence of genetic mutations associated with thyroid cancer. Detecting these mutations early can help guide appropriate surveillance and interventions to reduce the risk of cancer progression.
Conclusion
Lingual thyroid is a rare and often challenging condition to diagnose and manage. A combination of clinical examination, imaging studies, and laboratory tests can help confirm the diagnosis, while genetic testing can provide valuable information about potential underlying genetic abnormalities and guide treatment decisions. By understanding the role of genetic testing in the management of lingual thyroid, healthcare providers can better tailor their care to the unique needs of each patient.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)