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TSHR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TSHR gene

The TSHR gene provides instructions for making a receptor that regulates thyroid gland development and hormone production.

Normal Function

The TSHR gene provides instructions for making a protein, known as a receptor, that attaches (binds) to a hormone called thyroid stimulating hormone (TSH). This receptor spans the membrane of certain cells (called follicular cells) in the thyroid gland, a butterfly-shaped tissue in the lower neck. A large part of the receptor sits on the outer surface of the cell (extracellular), and a small portion is retained inside the cell (intracellular).

Thyroid stimulating hormone binds to the extracellular portion of the receptor like a key fitting into a lock, activating a series of reactions that control development of the thyroid gland and its functions. Among its functions, the thyroid gland produces iodine-containing hormones (thyroid hormones), which help regulate growth, brain development, and the rate of chemical reactions in the body (metabolism).

Health Conditions Related to Genetic Changes

Congenital hypothyroidism

Several TSHR gene mutations have been identified in people with congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from birth. TSHR gene mutations change one of the protein building blocks (amino acids) used to make the thyroid stimulating hormone receptor.

  • Some mutations prevent the receptor from properly spanning the membrane, and in some cases the entire receptor is retained inside the cell.
  • Other mutations impair the receptor's ability to bind with thyroid stimulating hormone, even though the receptor correctly spans the membrane.

Without properly functioning receptors, thyroid hormone production is not stimulated. The body tries to correct the blocked stimulation by producing more thyroid stimulating hormone. In some cases, the increased levels of thyroid stimulating hormone compensate for receptors with minor defects, and the thyroid functions normally. In other cases, thyroid hormone levels remain low, causing mild to severe congenital hypothyroidism. Impaired thyroid stimulating hormone receptors may also disrupt thyroid development, and as a result, the gland is smaller than normal. Cases of congenital hypothyroidism caused by TSHR gene mutations are sometimes classified as thyroid dysgenesis because development of the thyroid gland is impaired.

Graves' disease

MedlinePlus Genetics provides information about Graves' disease.

Other disorders

TSHR gene mutations can cause disorders associated with hyperthyroidism. These mutations change one of the amino acids used to make the thyroid stimulating hormone receptor. As a result, the receptor is continuously activated and overstimulates the production of thyroid hormones. TSHR gene mutations can lead to an enlarged thyroid gland (goiter) and symptoms of hyperthyroidism, such as a rapid heartbeat.

  • Nonautoimmune congenital hyperthyroidism (or sporadic toxic thyroid hyperplasia): Hyperthyroidism present from birth.
  • Nonautoimmune autosomal dominant hyperthyroidism (or hereditary toxic thyroid hyperplasia): Onset of hyperthyroidism that begins in childhood or adulthood.

Tumors

Sometimes gene mutations are acquired during a person's lifetime and are present only in certain cells. This type of mutation is called somatic, and it is not inherited. Somatic mutations in the TSHR gene have been identified in thyroid tumors and are found only in the tumor cells.

  • Somatic TSHR gene mutations have been reported in many cases of noncancerous (benign) thyroid tumors, called nodules or adenomas, which are associated with an overactive thyroid (hyperthyroidism).
  • Somatic mutations have also been identified in some cancerous (malignant) thyroid tumors known as thyroid carcinomas.

As a result of these somatic mutations, the thyroid stimulating hormone receptor is continuously activated, which could prompt the overgrowth of thyroid cells.

Other Names for This Gene

  • LGR3
  • thyrotropin receptor
  • TSH Receptors
  • TSHR_HUMAN

Frequently Asked Questions

Newborns with congenital hypothyroidism often show no obvious symptoms at birth, which is why newborn screening is crucial. If symptoms do appear, they can be subtle and include prolonged jaundice, poor feeding, lethargy, constipation, a hoarse cry, or a puffy face. Early detection and treatment are vital to prevent severe intellectual disability and growth problems, as thyroid hormones are essential for normal brain development.
Yes, congenital hypothyroidism caused by TSHR gene mutations usually requires lifelong thyroid hormone replacement therapy. These mutations impair the thyroid gland's ability to respond to TSH and produce sufficient thyroid hormones on its own, making external hormone supplementation necessary to maintain normal body functions and development.
If congenital hypothyroidism is not treated early and consistently, the lack of thyroid hormones can lead to severe and irreversible intellectual disability, stunted growth, and developmental delays. Other potential issues include hearing impairment, problems with motor skills, and persistent fatigue.
Congenital hypothyroidism is typically diagnosed through routine newborn screening tests that measure TSH and thyroid hormone levels. If TSHR gene mutations are suspected, genetic testing can confirm the specific cause. Management involves lifelong daily oral thyroid hormone replacement therapy (levothyroxine) to restore normal hormone levels, which is crucial for healthy development.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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