Polygenic score
Influential genes: VAV3
VAV3 gene has been discovered to be involved in immune function, and it has been associated with hypothyroidism. This finding is novel, and more research may be needed.
Hypothyroidism is a medical condition caused by insufficient production of thyroid gland hormones. There are two main types of hypothyroidism:
Hormones are substances released by glands to the bloodstream that can influence even distant organs. For more information, read the Endocrine system overview on the Macromo Knowledge Base.
It's important to mention a few hormones which are either influencing or are being produced by the thyroid gland and their respective functions.
Hormones produced by the hypothalamus
Hormones produced by the pituitary gland
Hormones produced by the thyroid gland
The two forms of thyroid hormone are produced by follicular cells of the thyroid gland. Those cells actively capture iodine from the blood and bind it to tyrosine residues (Tyrosine is an amino acid that the body naturally produces) within the thyroglobulin molecule (a protein produced by the thyroid gland). Combination of molecules with bound iodine forms required hormones. This whole process is regulated by TSH (thyroid-stimulating hormone) produced by the pituitary gland, and it is not possible without sufficient amounts of iodine in the blood. In humans, T4 is the primary form of thyroid hormone in the blood and is released approximately 14 times more than T3[1]. But since it's an inactive form with minimal effect on the metabolism, it eventually converts to T3, which is metabolically active. Thyroid hormones affect almost every cell of the body (due to their easy accessibility by the bloodstream) and influence metabolism.
If the hormone levels are high, we can talk about hyperthyroidism; when low, it's called hypothyroidism. Some of their functions are following:
Hypothyroidism can have many different causes distributed to primary and secondary causes, mainly based on the structures they affect. A primary cause is a condition that directly impacts the thyroid gland and causes lower secretion of thyroid hormones. Secondary causes (or sometimes known as central hypothyroidism) affect the other structures involved in regulating thyroid gland secretion (pituitary gland, hypothalamus).
Primary cause
Secondary cause - a rare cause of hypothyroidism resulting from damage of central structures - tumorous growth, hemorrhage, cysts and abscesses, radiation therapy.
Hypothyroidism can also develop during pregnancy and increase the risk of miscarriage, premature delivery, and higher blood pressure. It can be easily overlooked due to the similarities between hypothyroidism and pregnancy syndromes. A fetus can be seriously affected since thyroid hormones are essential for physical and mental development. Fortunately, treatment is well tolerated by pregnant women, and when treated correctly, the fetus isn't usually affected. Most women's thyroid function usually fully returns within 12 to 18 months.
The prevalence and incidence of thyroid dysfunction vary worldwide, mainly determined by iodine intake from food. Together with autoimmune disease (Hashimoto's thyroiditis), iodine deficiency is responsible for most cases. Hypothyroidism often remains undiagnosed, mainly in non-developed countries. Some studies suggest that the overall prevalence of hypothyroidism reaches up to 5%, with many more unknown cases.[2] Thyroid problems represent around 40% of the disorders treated by endocrinology specialists.
A person is more prone to develop hypothyroidism in the presence of the following risk factors:
Genetics play an important role in determining the levels of circulating thyroid hormones, although there hasn't been any specific gene proven to be connected with the development of hypothyroidism. Having a first-degree family member affected by a thyroid disease increases your chance of developing a thyroid disorder.
Approximately 30-60% of hypothyroidism cases have a link to family history.[3;4]
With lower thyroid hormone levels, general metabolism is slowed down. The signs and symptoms usually develop slowly over the years and vary according to the severity of thyroid hormone deficiency.
Patients can experience:
Children may have problems with development and growth. Elderly people can develop memory problems and depression.
Since the symptoms of hypothyroidism develop very slowly, hormone blood level tests are essential in the early detection of the disease and, therefore, prevention of progression and severe complications. Medical specialists check mainly for the levels of TSH but also T3 and T4. Patients with thyroid disorders should have ultrasound checkups regularly to detect the extent of inflamed areas and potential tumorous growth.
Standard treatment of hypothyroidism involves daily oral use of synthetic thyroid hormone - levothyroxine (T4 synthetic analog). It's not a definitive cure but a lifelong hormone supplementation that prevents symptoms and complications from developing. Levothyroxine is sold under brand names such as Euthyrox or Letrox in various concentrations. T3 analogs are used only in cases of insufficient levothyroxine treatment. It's important to regularly check levels of TSH, evaluate the results of the treatment, and prescribe an appropriate dose for the patient.
Unfortunately, there is no possible way to prevent hypothyroidism unless caused by iodine insufficiency, which is mainly common in developing countries. Nevertheless, there are factors that increase the risk of developing thyroid diseases of any type, with few of them manageable. Focusing on those risk factors can positively impact your general health:
The most important is to regularly undergo screening when risk factors are present, consult medical specialists when symptoms are observed, and adhere to recommended treatment to prevent the progression of the disease and severe complications.
Hypothyroidism is a disease manageable by hormone supplementation when rightly diagnosed. Therefore, patients diagnosed early and adhering to the treatment don't experience any signs and symptoms, and their life isn't endangered or influenced by the condition.
If left untreated, states such as anemia, voice changes, or hearing loss can develop. Severe hypothyroidism manifests as myxedema - the deposition of substances in the dermis (deeper layer of the skin) that causes swelling of the affected area. The main deposit sites are behind the eyes and on the lower legs. The most severe cases exhibit hypothermia, hypotension, respiratory depression, or even coma and must be hospitalized. Once the disease has progressed to myxedema coma, the mortality rate with modern treatment reaches up to 20%. The state has been historically mortal in 80% of the cases.[5]
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