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Hypothyroidism, Genetic Testing

Hypothyroidism is when the thyroid gland does not produce enough thyroid hormones, slowing down various body functions. Symptoms include fatigue, weight gain, and cold intolerance. Treatment includes thyroid hormone replacement therapy to restore normal hormone levels and relieve symptoms. The assessment of the Polygenic Risk Score for hypothyroidism is based on the examination of 44 gene polymorphisms.

Genetic testing for hypothyroidism is included along with 13 other diseases in the Genetic Screening for Endocrine and Genitourinary Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

There may be several causes related to hypothyroidism:

  • Autoimmune disorders: the most common cause of hypothyroidism is Hashimoto's thyroiditis due to the production of antibodies to the thyroid gland. However, the exact triggers of this disease are unknown, although a combination of genetic and environmental factors has been suggested.
  • Response to treatment for hyperthyroidism with radioactive iodine or antithyroid medications used to normalize thyroid function that triggers permanent hypothyroidism.
  • Thyroid surgery involves the removal of all or part of the thyroid gland.
  • Radiation therapy treatment for head and neck cancer.
  • Medications used to treat other diseases (amiodarone, lithium, interferon-alpha, interleukin-2).
  • Thyroiditis or inflammation of the thyroid gland due to infections, congenital disease of defective or absent thyroid gland, or disorders of the pituitary gland involving absence of stimuli on the thyroid gland, infiltrative thyroid disorders.
  • Pregnancy can trigger the production of antibodies against the thyroid gland. If left untreated, it can increase the risk of miscarriage, premature delivery and preeclampsia or fetal development.
  • Iodine deficiency since it is essential for the production of thyroid hormones. Iodine deficiency can lead to hypothyroidism, while excess iodine can worsen existing hypothyroidism.

In addition, several factors have been described that may increase the risk of hypothyroidism:

  • Age: the risk increases with age, especially after age 60.
  • Gender: women have a higher risk of hypothyroidism than men.
  • Having other autoimmune diseases such as type 1 diabetes, celiac disease, and rheumatoid arthritis.

Signs and symptoms of hypothyroidism vary depending on the severity of the hormone deficiency and may vary from person to person. In the early stages, the symptoms of hypothyroidism are barely noticeable, and as the disease slowly progresses, they become more evident. Some common symptoms include:

  • Fatigue and tiredness.
  • Weight gain.
  • Cold tolerance problems.
  • Joint and muscle pain, cramps.
  • Dry, flaky skin, brittle, and weakened hair and nails.
  • Loss of libido.
  • Irregular or heavy menstrual periods and fertility problems.
  • Slow heart rate.
  • Depression.
  • Slow movements and thinking.
  • Constipation
  • Elevated cholesterol levels
  • Swelling of the face, hands, and feet.

In addition, children may experience slower growth and development, adolescents may begin puberty earlier than usual, and older people may develop memory problems in addition to depression.


Hypothyroidism cannot be prevented, but it is easily manageable if detected early and properly treated. The best way to prevent a severe form of the disease or for symptoms to limit your quality of life is to be aware of possible symptoms, and if you experience any, see your doctor.

Additional information
Results Time4 - 5 Weeks
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