Woman with genetic thyroid problem feeling thyroid gland with her hands on her neck

Are thyroid problems genetic?

Medically reviewed on August 17, 2022 by Jillian Foglesong Stabile, MD, FAAFP. To give you technically accurate, evidence-based information, content published on the Everlywell blog is reviewed by credentialed professionals with expertise in medical and bioscience fields.


Table of contents


If you have a thyroid condition or thyroid disorder, you’ve likely wracked your brain trying to determine the cause—do your diet or lifestyle choices play a part? You might even have blamed your current medications for your thyroid problem.

It can help to know that thyroid conditions are often genetic. [1] However, just because your thyroid condition could be genetic doesn’t mean you can’t remain in control of your health.

Read on to discover possible genetic links in thyroid diseases and learn about available testing. With this knowledge, you’ll be better prepared to manage your thyroid problems and live a healthy life.

The genetics of thyroid diseases

Scientists have studied the relationship between genes and thyroid problems in recent years. Their findings suggest that genes can play a major role in thyroid diseases. [2]

In fact, genes may determine the levels of two hormones that contribute to most thyroid conditions: thyroxine and TSH.

Let’s take a closer look at these two important hormones:

  • Thyroxine – Produced by the thyroid, thyroxine helps regulate metabolism and other bodily processes. However, an overabundance of thyroxine can result in hyperthyroidism. Symptoms of this condition include an increased heart rate, weight loss, and anxiety. [3]
  • TSH – Also known as thyroid-stimulating hormone, TSH is a hormone that helps regulate the production of thyroxine. It also helps regulate the production of triiodothyronine, another essential hormone. While high concentrations of TSH can indicate hypothyroidism, low concentrations can indicate hyperthyroidism. [4]

Some studies suggest that up to 67% of thyroxine and TSH concentrations are genetically determined. [2] If this is true, many thyroid risk factors may also be genetically predetermined.

Possible genes that affect thyroid function

Preliminary studies have isolated several genes that may be responsible for thyroid issues. These genes include: [2]

  • Phosphodiesterase 8B
  • Iodothyronine deiodinase
  • Iodothyronine deiodinase 2

Although studies have shown a correlation between these genes and the likelihood of thyroid problems, no single gene has been identified as the root cause of any thyroid problem. [5]

Instead, many genes may be responsible for mutations that can contribute to thyroid diseases. [5]

Specific diseases that may affect thyroid function

Genetics may also be responsible for thyroid conditions outside of hyperthyroidism and hypothyroidism. These diseases include:

  • Hashimoto’s disease – Hashimoto’s disease is an autoimmune disorder in which immune-system cells attack thyroid gland stimulating hormones. Studies suggest that you may be at a higher risk of developing the disease if it runs in your family. [6]
  • Thyroid cancer – Just like Hashimoto’s disease, some thyroid cancers may be linked to genetics. [1]
  • Graves’ disease – Similar to Hashimoto’s disease, Graves’ disease is an autoimmune disorder that results in an overactive thyroid gland production of thyroxine. Studies suggest that genetics may play a prominent role in Graves’ disease. [8]

If you suspect your genes are behind your thyroid disorder, your healthcare provider will likely need to perform specialized gene tests. However, if you’re wondering how to check your thyroid at home, you can check in on your thyroid hormone levels. An at-home lab test that measures your thyroid hormone levels is an excellent place to start.

How to test for genetic thyroid disorders

For most people, answering the question, “are thyroid problems genetic?” isn’t enough. They may also want to know about available testing.

Like most genetic testing, genetic testing for thyroid dysfunction involves analyzing gene sequences and molecules for genes associated with diseases. To do this, healthcare providers may rely on a technique known as thyroid fine needle aspiration biopsy (FNAB). [8]

In short, FNAB tests involve a healthcare provider inserting a very fine needle into a thyroid nodule to extract a sample. The healthcare provider can then analyze the thyroid cells obtained in the sample for genes associated with thyroid dysfunction. [8]

To analyze the genes, the healthcare provider may utilize one or more of the following gene sequencing techniques: [9]

  • Afirma gene expression classifier – A relatively new technique, the Afirma gene expression classifier looks at messenger RNA.
  • Fluorescence in situ hybridization – This sequencing method uses fluorescent microscopy to analyze potential genes.
  • Sanger dideoxy sequencing – The most widely used technique, the Sanger dideoxy sequencer creates DNA fragments by copying sequences that may be linked to thyroid disorders.

Although these tests are highly specialized and must be performed by trained professionals, you can still learn about your thyroid function through at-home hormone tests.

Take control of your thyroid health with Everlywell

With the Thyroid Test from Everlywell, you can measure three main thyroid hormones. You can even check in on thyroid antibodies (TPOab).

Whether you have a family history of thyroid problems or are just interested in your hormone levels, Everlywell can help you take back control of your health.

What are the potential early signs of thyroid problems?

What Are Free T3 and T4 and How Can You Test for Them?

How to check thyroid at home


References

  1. Cleveland Clinic. Thyroid Disease May Run in Your Family — and You Might Not Know It. URL. Accessed August 17, 2022.
  2. The Clinical Biochemist Review. Genetics of thyroid function and disease. URL. Accessed August 17, 2022.
  3. StatPearls. Hyperthyroidism. URL. Accessed August 17, 2022.
  4. Cellular and Molecular Life Sciences. The TSH receptor and its role in thyroid disease. URL. Accessed August 17, 2022.
  5. Folia Medica. Genetics of Thyroid Disorders. URL. Accessed August 17, 2022.
  6. Mayo Clinic. Hashimoto's disease. URL. Accessed August 17, 2022.
  7. Endocrinology and Metabolism Clinics of North America. The genetics of Graves' disease. URL. Accessed August 17, 2022.
  8. American Thyroid Association. Utility of genetic testing in thyroid nodule biopsies. URL. Accessed August 17, 2022.
  9. Nebula Genomics. Genetic Testing for Thyroid Cancer – Assessing the Risks to Take Action? URL. Accessed August 17, 2022.
Everlywell makes lab testing easy and convenient with at-home collection and digital results in days. Learn More