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Congenital Hypothyroidism

Table of Contents

Congenital Hypothyroidism

CH; CHT; Congenital Myxedema; Cretinism

Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). Over a thousand babies are born each year in the United States with this condition. It is nearly twice as common in females compared to males. Learn about causes and screening.

cretinism

Image by Internet Archive Book Images/Wikimedia

About

Jaundice in newborn

Image by Dr. Hudson/Wikimedia

Jaundice in newborn

This 6-week-old female is presented with symptoms of jaundice, which was proven to be due to hypothyroidism. This patient was treated with supplemental thyroid hormonal therapy, and appeared to be a normal healthy child at 1 year of age. Female infants are statistically twice as likely to develop congenital hypothyroidism than the male infants.

Image by Dr. Hudson/Wikimedia

What Is Congenital Hypothyroidism?

Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.

Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.

Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.

Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.

Source: MedlinePlus Genetics

Additional Materials (6)

Congenital hypothyroidism

3 month old infant with untreated CH; close up of face, showing myxedematous facies, macroglossia, and skin mottling.

Image by Rastogi and LaFranchi; licensee BioMed Central Ltd.

Cell with DNA

DNA molecule unwinding from a chromosome inside the nucleus of a cell.

Image by NHGRI

Joe's Story - Congenital Hypothyroidism [British Thyroid Foundation]

Video by BTFThyroid/YouTube

Chloe's Story - Congenital Hypothyroidism [British Thyroid Foundation]

Video by BTFThyroid/YouTube

California Department of Public Health's Newborn Screening Program

Video by CA Public Health/YouTube

Clare's Story - Congenital Hypothyroidism [British Thyroid Foundation]

Video by BTFThyroid/YouTube

Congenital hypothyroidism

Rastogi and LaFranchi; licensee BioMed Central Ltd.

Cell with DNA

NHGRI

4:50

Joe's Story - Congenital Hypothyroidism [British Thyroid Foundation]

BTFThyroid/YouTube

2:26

Chloe's Story - Congenital Hypothyroidism [British Thyroid Foundation]

BTFThyroid/YouTube

3:24

California Department of Public Health's Newborn Screening Program

CA Public Health/YouTube

4:29

Clare's Story - Congenital Hypothyroidism [British Thyroid Foundation]

BTFThyroid/YouTube

Causes

Sensitive content

This media may include sensitive content

Breastfeeding and Iodine

Image by TheVisualMD

Sensitive content

This media may include sensitive content

Breastfeeding and Iodine

Breastfeeding and Iodine

Image by TheVisualMD

What Causes Congenital Hypothyroidism?

Congenital hypothyroidism can be caused by a variety of factors, only some of which are genetic. The most common cause worldwide is a shortage of iodine in the diet of the mother and the affected infant. Iodine is essential for the production of thyroid hormones. Genetic causes account for about 15 to 20 percent of cases of congenital hypothyroidism.

The cause of the most common type of congenital hypothyroidism, thyroid dysgenesis, is usually unknown. Studies suggest that 2 to 5 percent of cases are inherited. Two of the genes involved in this form of the condition are PAX8 and TSHR. These genes play roles in the proper growth and development of the thyroid gland. Mutations in these genes prevent or disrupt normal development of the gland. The abnormal or missing gland cannot produce normal amounts of thyroid hormones.

Thyroid dyshormonogenesis results from mutations in one of several genes involved in the production of thyroid hormones. These genes include DUOX2, SLC5A5, TG, and TPO. Mutations in each of these genes disrupt a step in thyroid hormone synthesis, leading to abnormally low levels of these hormones. Mutations in the TSHB gene disrupt the synthesis of thyroid hormones by impairing the stimulation of hormone production. Changes in this gene are the primary cause of central hypothyroidism. The resulting shortage of thyroid hormones disrupts normal growth, brain development, and metabolism, leading to the features of congenital hypothyroidism.

Mutations in other genes that have not been as well characterized can also cause congenital hypothyroidism. Still other genes are involved in syndromic forms of the disorder.

Source: MedlinePlus Genetics

Inheritance

Autosomal Recessive Inheritance

Image by CNX Openstax (credit: U.S. National Library of Medicine)

Autosomal Recessive Inheritance

The inheritance pattern of an autosomal recessive disorder with two carrier parents reflects a 3:1 probability of expression among offspring. (credit: U.S. National Library of Medicine)

Image by CNX Openstax (credit: U.S. National Library of Medicine)

How Is Congenital Hypothyroidism Inherited?

In the uncommon cases where congenital hypothyroidism is caused by changes in certain genes, babies inherit it from their biological (birth) parents.

In genetic causes of congenital hypothyroidism, it is usually inherited in an autosomal recessive pattern. This means that babies inherit the condition when each parent passes down a nonworking gene to their baby. Only babies with two nonworking genes—one from the mom and one from the dad—have this condition.
- People with one working copy and one nonworking copy of the gene are called carriers.
- Carriers do not have or develop the condition. However, they may pass down a nonworking copy of the gene to their children.
- If two parents are carriers of a nonworking copy of the gene, they have a 1 in 4 chance of having a child with congenital hypothyroidism.
- Carriers for congenital hypothyroidism often do not know they are carriers before having a child with the condition. In most cases, families have no history of the condition until the birth of a child with congenital hypothyroidism.
- Parents who already have a child with congenital hypothyroidism due to a change in their genes still have a 1 in 4 chance of having another child with congenital hypothyroidism. This 1 in 4 chance stays the same for all future children.
Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it.

Source: U.S. Health Resources & Services Administration

Symptoms

Hypotonia

Image by Sadasiv Swain

Hypotonia

6 m old baby with severe hypotonia, facial dysmorphism and developmental disability in HRB clinic

Image by Sadasiv Swain

What Are the Signs and Symptoms of Congenital Hypothyroidism?

Babies with congenital hypothyroidism usually do not have symptoms at birth. It is important to treat the condition before symptoms appear. Signs of the condition may start three to four weeks after birth and include the following:

Slow growth
Floppy arms and legs (hypotonia)
Increased sleep
Difficulty feeding
Constipation
Yellow eyes or skin (jaundice)
Large tongue (macroglossia)
Cool, pale skin
Large belly with a navel that sticks out
Hoarse-sounding cry

Source: U.S. Health Resources & Services Administration

Screening

Newborn screening

Image by www.genome.gov

Newborn screening

Newborn baby feet and letters of A, T, C G.

Image by www.genome.gov

Newborn Screening for Congenital Hypothyroidism

Newborn screening for congenital hypothyroidism is done using a small amount of blood collected from your baby’s heel. During screening, a special machine measures how much of certain substances (called thyroid stimulating hormone [TSH] and/or thyroxine [T4]) are in your baby's blood. Babies with low or normal levels of thyroxine and high levels of thyroid stimulating hormone might have congenital hypothyroidism.

What Happens After an Out-of-Range Screening Result?

If your baby’s blood spot screening result for congenital hypothyroidism is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.

An out-of-range screening result does not mean that your baby definitely has congenital hypothyroidism. It does mean that your baby needs more follow-up testing.

Your baby may need the following tests after an out-of-range screening result:

Blood tests
Picture of the thyroid (also called imaging, ultrasound, or uptake scan)

You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems early on if they are not diagnosed and treated quickly.

False-positive newborn screening results for this condition can happen. Some situations can affect screening results for congenital hypothyroidism:

Screening samples were collected too early (before the baby is 24 hours old)
Babies who were born early (premature) or had a low birth weight
Babies who have very low levels of iodine
Babies who are born to mothers with hyperthyroidism

False-negative newborn screening results also can happen. Babies who are born early may not make enough TSH to get an out-of-range result, even if they have congenital hypothyroidism. Babies who are treated with dopamine may also have false-negative results.

Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.

Source: U.S. Health Resources & Services Administration

TSH (Thyroid-Stimulating Hormone) Test

TSH (Thyroid-Stimulating Hormone) Test

Also called: TSH, Thyroid-Stimulating Hormone, Thyrotropin

The test measures the amount of thyroid-stimulating hormone (TSH) in a sample of your blood. TSH is made in the pituitary gland and stimulates the release of thyroid hormone. If your TSH levels are too high or too low, it can indicate a thyroid disorder.

TSH (Thyroid-Stimulating Hormone) Test

Also called: TSH, Thyroid-Stimulating Hormone, Thyrotropin

The test measures the amount of thyroid-stimulating hormone (TSH) in a sample of your blood. TSH is made in the pituitary gland and stimulates the release of thyroid hormone. If your TSH levels are too high or too low, it can indicate a thyroid disorder.

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Use the slider below to see how your results affect your health.
(mi.U.)/mL
0.45
4.5
Your result is Normal.
The pituitary gland releases TSH into the blood to stimulate the thyroid to make more thyroid hormone. The amount of TSH that the pituitary sends into the bloodstream depends on the amount of thyroid hormone in the body. In most healthy individuals, a normal TSH value means that the thyroid is functioning properly.
Related conditions
You may need a TSH test if you have symptoms of too much or too little thyroid hormone in your blood.
Hyperthyroidism (too much thyroid hormone) is also called overactive thyroid. Having more thyroid hormones than you need speeds up your body functions and causes symptoms that include:
- Weight loss, even though you may be eating more than usual
- Rapid or irregular heartbeat
- Feeling nervous or irritable
- Trouble sleeping, fatigue
- Shaky hands, muscle weakness
- Sweating or being very sensitive to heat
- Frequent bowel movements (pooping a lot)
- Goiter (enlarged thyroid)
Hypothyroidism (too little thyroid hormone) is also called underactive thyroid. Not having enough thyroid hormone slows down your body functions and causes symptoms that include:
- Fatigue
- Weight gain
- Being very sensitive to cold
- Joint and muscle pain
- Dry skin
- Dry, thinning hair
- Heavy or irregular menstrual periods
- Depression
- Constipation
You may also have a TSH test, along with other tests, to help diagnose unusual bumps or lumps on your thyroid that may be thyroid cancer or thyroid nodules (growths on your thyroid that aren't cancer).
Your TSH test results can tell you if your thyroid is making too much or too little thyroid. But the test can't explain why your TSH levels may be too high or too low.
If your test results aren't normal, your provider will probably order other thyroid blood tests to find out what's causing your thyroid problem. These blood tests may include:
- T4 thyroid hormone test
- T3 thyroid hormone test
- Thyroid antibodies test to help diagnose an autoimmune thyroid disorder, such as:
  Graves' disease, the most common cause of hyperthyroidism
  Hashimoto's disease, that the most common cause of hypothyroidism
In certain cases, an abnormal TSH result may be a sign of a pituitary gland problem, but this doesn't happen often.
1. 004259: Thyroid-stimulating Hormone (TSH) | LabCorp [accessed on Oct 04, 2018]
2. TSH test: MedlinePlus Medical Encyclopedia [accessed on Oct 04, 2018]
3. TSH [accessed on Oct 04, 2018]
4. 004593: Thyroid-stimulating Hormone (TSH) in Pregnancy | LabCorp [accessed on Oct 04, 2018]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (28)

Thyroid Gland

The thyroid is a small, butterfly-shaped gland located at the base of the neck, just below the Adam's apple. The thyroid gland produces two main hormones, thyroxine (T4) and triiodothyronine (T3), which play key roles in regulating many aspects of metabolism, the rate at which the cells use energy and carry out chemical processes. The thyroid and the hormones it produces are under the control of a hormone called TSH (thyroid-stimulating hormone) produced by the pituitary gland.

Image by TheVisualMD

Importance of Thyroid Gland

The thyroid and the hormones it produces, for example, are under control of a hormone called TSH (thyroid-stimulating hormone), which is produced by the pituitary gland. The pituitary gland is often referred to as the "master gland" because it regulates the activities of other endocrine glands. The pituitary gland, however, takes its orders from the hypothalamus, which decides which particular hormones the pituitary should release and when.

Image by TheVisualMD

Thyroid Gland

Image by CFCF

Follicular Cell of Thyroid Gland

The thyroid is a small, butterfly-shaped gland located at the base of the neck, just below the Adam's apple. The thyroid gland produces two main hormones, thyroxine (T4) and triiodothyronine (T3). The hormones help maintain body temperature, heart rate, moods, energy levels, bowel function and rates of fat, protein and carbohydrate metabolism. The thyroid contains spherical follicles that absorb iodine ions from the blood for use in the production of T4 and T3. Iodine deficiency, rare in the U.S., affects two billion people worldwide and is the leading preventable cause of mental retardation.

Image by TheVisualMD

Woman with visible Brain revealing Pituitary Gland

The pituitary gland is a pea-sized endocrine gland located at the base of the skull, between the optic nerves. It is often referred to as the endocrine system's \"master gland\" because it regulates the activities of other glands. The pituitary, however, takes its orders from the hypothalamus, which decides which particular hormones the pituitary should release and when. The pituitary governs testosterone and estrogen production, as well as ovulation and breast milk production; it also helps regulate growth, blood pressure, maintain proper fluid balance, and other aspects of metabolism.

Image by TheVisualMD

Follicle-stimulating hormone

Follicle-stimulating hormone

Image by MartaFF

Follicle-stimulating hormone

The time scale starts with the (LMP), given as day number. Day number 1 corresponds to 0 to 0.99 days from LMP, and Day number 2 corresponds to 1.00 to 1.99 days from LMP and so forth. The time scale ends at whatever is the actual next menstruation, which marks the beginning of the next cycle, which is equivalent to starting all over again from the beginning of the time scale.

Image by Mikael Haggstrom

hCG testing for pregnancy

Diagram of typical immunoassay home pregnancy test which detects human chorionic gonadotropin (hCG). (A) A urine sample is applied to the stick. If pregnant, this should contain hCG. (B) As the sample is absorbed into the stick it goes through free dye-labeled antibodies that recognize and stick to hCG. (C) An anchored set of antibodies stick to and capture hCG molecules (and the attached dye-labeled antibodies), creating the first line. In the "not pregnant" sample no hCG is attached to the dye-labeled antibodies, so they wash past this point and no line appears. (D) A second anchored set of antibodies captures the dye-labeled antibodies, providing a positive control to indicate that the test is working properly.

Image by Madprime

The classic finding of exophthalmos and lid retraction in Graves' disease

Proptosis and Lid Retraction from Graves Disease : Photograph showing a classic finding of Graves' Disease, proptosis and lid retraction.

Image by Jonathan Trobe, M.D. - University of Michigan Kellogg Eye Center

What are the symptoms of Graves' disease?

Graves' disease symptoms

Image by Original uploader was Madhero88 at en.wikipedia

What is Graves' ophthalmopathy?

Magnetic Resonance Imaging of the orbits, showing congestion of the retro-orbital space and enlargement of the extraocular muscles (arrows), consistent with the diagnosis of Graves' Ophthalmopathy.

Image by Huy A Tran and Glenn EM Reeves

Thyroid Gland

The thyroid is a small, butterfly-shaped gland located at the base of the neck, just below the Adam`s apple. Hormones produced by the thyroid gland have an enormous impact on many aspects of metabolism.

Image by TheVisualMD

Thyroid Stimulating Hormone

A Classic Negative Feedback Loop

Image by OpenStax College

Woman's neck region with visible thyroid

The thyroid is a small, butterfly-shaped gland located at the base of the neck. The gland produces two main hormones, thyroxine and triiodothyronine. The hormones help maintain body temperature, heart rate, moods, energy levels, bowel function and rates of fat, protein and carbohydrate metabolism. The thyroid is under the control of a hormone called thyroid-stimulating hormone produced by the pituitary gland; the pituitary gland, in turn, takes its orders from the hypothalamus. Thyroid problems usually fall into one of two categories: hypothroidism, when the gland produces too little hormone; or hyperthroidism, when the gland produces too much.

Image by TheVisualMD

Woman with Visible Thyroid

The thyroid is a small, butterfly-shaped gland located at the base of the neck, just below the Adam's apple. The thyroid gland produces two main hormones, thyroxine (T4) and triiodothyronine (T3). The hormones help maintain body temperature, heart rate, moods, energy levels, bowel function and rates of fat, protein and carbohydrate metabolism. The thyroid and the hormones it produces are under the control of a hormone called TSH (thyroid-stimulating hormone) produced by the pituitary gland, which is often referred to as the \"master gland\" because it regulates the activities of other endocrine glands.

Image by TheVisualMD

Thyroid Stimulating Hormone (TSH)

The thyroid is a small, butterfly-shaped gland located at the base of the neck that produces hormones that help maintain body temperature, heart rate, moods, and metabolism. Hyperthyroidism (when too much hormone is produced) is often caused by an autoimmune disorder called Graves' disease, in which antibodies produced by the immune system over-stimulate the thyroid. The production of thyroid hormones is under the control of a hormone called TSH (thyroid-stimulating hormone) produced by the pituitary gland.

Image by TheVisualMD

Woman With Goiter Due to Hypothyroidism

The thyroid is a small, butterfly-shaped gland located at the base of the neck that produces two hormones, thyroxine (T4) and triiodothyronine (T3), that help maintain body temperature, heart rate, moods, and metabolism. A goiter is any visible enlargement of the thyroid gland. In the past, goiters were often due to a lack of iodine in the diet (iodized salt has greatly reduced such goiters). Goiters can be present in cases of either hormone overproduction (hyperthyroidism) or underproduction (hypothyroidism).

Image by TheVisualMD

Hormonal Control of the Menstrual Cycle, Animation.

Video by Alila Medical Media/YouTube

What Is High FSH?

Video by fertilityauthority/YouTube

What is FSH?

Video by fertilityauthority/YouTube

Human Physiology - Hormonal Regulation of Male Reproduction

Video by Janux/YouTube

What is Graves Disease?

Video by TriHealth Cincinnati/YouTube

Graves' Disease Education

Video by Jennifer Riccobono/YouTube

Reproductive System, Part 1 - Female Reproductive System: Crash Course A&P #40

Video by CrashCourse/YouTube

Male Sex Hormones

Video by Academic Algonquin/YouTube

Thyroid gland - What's the function of the thyroid?

Video by Healthchanneltv / cherishyourhealthtv/YouTube

Normal Thyroid cell

A normal thyroid cell (Nthy.ori 3-1) adhered to gold surface. Picture taken by a Scanning electron microscope (SEM), University of Crete, Heraklion, Greece.

Image by ChronakiDimitra

Thyroid scintigraphy

5 different scintigramms taken from thyroids with different syndroms: A) normal thyroid, B) Graves disease, diffuse increased uptake in both thyroid lobes, C) Plummers disease (TMNG, toxic multinodular goitre), D) Toxic adenoma, E) Thyroiditis. Marker 99Tc

Image by Petros Perros

Thyroid Gland

TheVisualMD

Importance of Thyroid Gland

TheVisualMD

Thyroid Gland

CFCF

Follicular Cell of Thyroid Gland

TheVisualMD

Woman with visible Brain revealing Pituitary Gland

TheVisualMD

Follicle-stimulating hormone

MartaFF

Follicle-stimulating hormone

Mikael Haggstrom

hCG testing for pregnancy

Madprime

The classic finding of exophthalmos and lid retraction in Graves' disease

Jonathan Trobe, M.D. - University of Michigan Kellogg Eye Center

What are the symptoms of Graves' disease?

Original uploader was Madhero88 at en.wikipedia

What is Graves' ophthalmopathy?

Huy A Tran and Glenn EM Reeves

Thyroid Gland

TheVisualMD

Thyroid Stimulating Hormone

OpenStax College

Woman's neck region with visible thyroid

TheVisualMD

Woman with Visible Thyroid

TheVisualMD

Thyroid Stimulating Hormone (TSH)

TheVisualMD

Woman With Goiter Due to Hypothyroidism

TheVisualMD

3:15

Hormonal Control of the Menstrual Cycle, Animation.

Alila Medical Media/YouTube

1:16

What Is High FSH?

fertilityauthority/YouTube

2:46

What is FSH?

fertilityauthority/YouTube

3:38

Human Physiology - Hormonal Regulation of Male Reproduction

Janux/YouTube

2:25

What is Graves Disease?

TriHealth Cincinnati/YouTube

9:07

Graves' Disease Education

Jennifer Riccobono/YouTube

10:15

Reproductive System, Part 1 - Female Reproductive System: Crash Course A&P #40

CrashCourse/YouTube

2:30

Male Sex Hormones

Academic Algonquin/YouTube

1:55

Thyroid gland - What's the function of the thyroid?

Healthchanneltv / cherishyourhealthtv/YouTube

Normal Thyroid cell

ChronakiDimitra

Thyroid scintigraphy

Petros Perros

Thyroxine Test

Thyroxine Test

Also called: Thyroxine Screen, Tetraiodothyronine

This test measures the level of thyroxine (T4) in the blood. T4 is the main hormone secreted into the bloodstream by the thyroid gland. Too much or too little T4 can indicate thyroid disease.

Thyroxine Test

Also called: Thyroxine Screen, Tetraiodothyronine

This test measures the level of thyroxine (T4) in the blood. T4 is the main hormone secreted into the bloodstream by the thyroid gland. Too much or too little T4 can indicate thyroid disease.

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Use the slider below to see how your results affect your health.
μg/dL
4.5
12
Your result is Normal.
Normal results vary based on the laboratory and the method used.
Related conditions
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Use the slider below to see how your results affect your health.
ng/dL
0.82
1.77
Your result is Normal.
Normal results vary based on the laboratory and the method used.
Related conditions
A thyroxine test is a blood test that helps diagnose thyroid conditions. The thyroid is a small, butterfly-shaped gland at the base of your throat. Your thyroid makes hormones that control the way your body uses energy. These hormones affect your weight, heart, body temperature, muscle strength, and even your mood. In children, thyroid hormones affect growth, too.
Thyroxine, also known as T4, is a type of thyroid hormone. A T4 test measures the level of T4 in your blood. Too much or too little T4 can be a sign of thyroid disease.
There are two forms of T4 in your blood:
- Free T4 is the active form of thyroxine hormone that enters your tissues where it's needed.
- Bound T4 is thyroxine that attaches or binds to certain proteins which prevent it from entering your tissues.
T4 levels can be measured with either a free T4 test or a total T4 test:
- A free T4 test directly measures the amount of free T4 in your blood. Medical experts believe this test provides more accurate information than a total T4 test, so it's used more often.
- A total T4 test measures free and bound T4 together. A calculation may be done to figure out how much T4 is free. This is a less accurate way to check how well your thyroid is working.
Other names: free thyroxine, free T4, total T4 concentration, T4 index, thyroxine screen, free T4 concentration, thyroxine test by equilibrium dialysis
A T4 test is used to check how well your thyroid is working. It's also used to help diagnose and monitor thyroid disease and conditions that may affect your thyroid, including:
- Hypothyroidism, or underactive thyroid, which is when your thyroid gland doesn't make enough thyroid hormone to meet your body's needs
- Hyperthyroidism, or overactive thyroid, which is when your thyroid gland makes more thyroid hormone than your body needs
- Disorders of the pituitary gland, which is a gland at the base of your brain that makes TSH (thyroid stimulating hormone). TSH controls how much T4 your thyroid gland makes. If the results from a TSH test aren't normal, a T4 test can help diagnose whether the problem is with your thyroid or your pituitary gland.
In certain cases, a T4 test may be done as part of a group of tests called a thyroid panel. A thyroid panel includes a test for TSH as well as other thyroid tests.
You may need a T4 test if your provider thinks you may have a thyroid problem. Usually, a TSH test is done first. If your TSH results aren't normal, a T4 test may be done to learn more.
Thyroid problems tend to run in families, so your provider may order a T4 test if a member of your family has had thyroid disease. You may also need a T4 test if you have symptoms of having too much or too little thyroid hormone.
Symptoms of hypothyroidism (too little thyroid hormone), may include:
- Weight gain
- Fatigue
- Dry skin
- Dry, thinning hair
- Being very sensitive to cold temperatures
- Heavy or irregular menstrual periods or fertility problems
- Slow heart rate
- Depression
Symptoms of hyperthyroidism (too much thyroid hormone) may include:
- Anxiety, nervousness, irritability
- Weight loss, even though your appetite may increase
- Shaky hands, muscle weakness
- Sweating or being very sensitive to heat
- Arrhythmia (a problem with the rate or rhythm of your heartbeat)
- Frequent bowel movements (poops)
- Goiter (an enlarged thyroid gland)
- Trouble sleeping and fatigue
If you had a free T4 test, your test results may be reported as "free T4." If you had a total T4 test, your results may be reported as "free T4 index (FTI)." To fully understand your results, your provider will often need to compare them with the results of other thyroid tests.
In general, T4 results that are lower than normal may be a sign of:
- Hypothyroidism, which may be caused by Hashimoto disease or another medical condition that causes your thyroid to make too little T4
- Thyroiditis (thyroid inflammation)
- Side effects from certain drugs
- Congenital hypothyroidism (a condition that affects babies from birth)
In general, T4 results that are higher than normal may be a sign of:
- Hyperthyroidism, which may be caused by Graves disease or another medical condition that causes your thyroid to make too much T4
- Thyroiditis (thyroid inflammation)
- Toxic goiter (an enlarged thyroid with areas that make extra thyroid hormone)
- Toxic thyroid nodule (a single lump on the thyroid that makes extra thyroid hormone)
- Too much iodine in your diet
- A noncancerous (not cancer) tumor in your pituitary gland
Talk with your provider about what your results mean.
1. Thyroxine (T4) Test: MedlinePlus Lab Test Information [accessed on Oct 03, 2018]
2. 000620: Thyroid Profile With TSH | LabCorp [accessed on Oct 03, 2018]
3. T4 - Clinical: T4 (Thyroxine), Total Only, Serum [accessed on Oct 03, 2018]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (15)

Thyroxine, Total (T4): Thyroid Gland

The thyroid is a 2-inch, butterfly-shaped gland located at the base of the neck, just below the Adam's apple. The gland consists of two lobes, which lie on either side of the windpipe. The thyroid produces the hormones thyroxine (T4) and triiodothyronine (T3), which help maintain body temperature, heart rate, and metabolism rates.

Image by TheVisualMD

Importance of Thyroid Gland

The thyroid and the hormones it produces, for example, are under control of a hormone called TSH (thyroid-stimulating hormone), which is produced by the pituitary gland. The pituitary gland is often referred to as the "master gland" because it regulates the activities of other endocrine glands. The pituitary gland, however, takes its orders from the hypothalamus, which decides which particular hormones the pituitary should release and when.

Image by TheVisualMD

Thyroxine, Total (T4): Pituitary Gland

The pituitary is a pea-size gland attached to the base of the brain. It is often referred to as the \"master gland\" because it regulates the activities of other endocrine glands. The pituitary, however, takes its orders from the hypothalamus, an area of the brain that sits above the pituitary and is connected to it by neurons. The hypothalamus decides which particular hormones the pituitary should release and when.

Image by TheVisualMD

Woman With Goiter Due to Hypothyroidism

The thyroid is a small, butterfly-shaped gland located at the base of the neck that produces two hormones, thyroxine (T4) and triiodothyronine (T3), that help maintain body temperature, heart rate, moods, and metabolism. A goiter is any visible enlargement of the thyroid gland. In the past, goiters were often due to a lack of iodine in the diet (iodized salt has greatly reduced such goiters). Goiters can be present in cases of either hormone overproduction (hyperthyroidism) or underproduction (hypothyroidism).

Image by TheVisualMD

Thyroxine 3D Molecule

The major hormone derived from the thyroid gland. Thyroxine is synthesized via the iodination of tyrosines (MONOIODOTYROSINE) and the coupling of iodotyrosines (DIIODOTYROSINE) in the THYROGLOBULIN. Thyroxine is released from thyroglobulin by proteolysis and secreted into the blood. Thyroxine is peripherally deiodinated to form TRIIODOTHYRONINE which exerts a broad spectrum of stimulatory effects on cell metabolism. (MESH/NLM/NIH)

Thyroid problems - most common thyroid problems, symptoms and treatment

Video by Healthchanneltv / cherishyourhealthtv/YouTube

Thyroid gland - What's the function of the thyroid?

Video by Healthchanneltv / cherishyourhealthtv/YouTube

Thyroid Animation

Video by Columbia University Department of Surgery/YouTube

Thyroid Gland, Hormones and Thyroid Problems, Animation

Video by Alila Medical Media/YouTube

Thyroid Gland - Thyroid Hormones

Video by Armando Hasudungan/YouTube

How does the thyroid manage your metabolism? - Emma Bryce

Video by TED-Ed/YouTube

Understanding Thyroid Function Tests

Video by AdonaiDEC/YouTube

T3 And T4, What Do They Do?

Video by EmpowHER/YouTube

Woman's neck region with visible thyroid

The thyroid is a small, butterfly-shaped gland located at the base of the neck. The gland produces two main hormones, thyroxine and triiodothyronine. The hormones help maintain body temperature, heart rate, moods, energy levels, bowel function and rates of fat, protein and carbohydrate metabolism. The thyroid is under the control of a hormone called thyroid-stimulating hormone produced by the pituitary gland; the pituitary gland, in turn, takes its orders from the hypothalamus. Thyroid problems usually fall into one of two categories: hypothroidism, when the gland produces too little hormone; or hyperthroidism, when the gland produces too much.

Image by TheVisualMD

Thyroxine

The structural formula (left) and a space-filling model (right) of (S)-triiodothyronine (T3, also called liothyronine in the pharmaceutical industry)

Image by Benjah-bmm27

Thyroxine, Total (T4): Thyroid Gland

TheVisualMD

Importance of Thyroid Gland

TheVisualMD

Thyroxine, Total (T4): Pituitary Gland

TheVisualMD

Woman With Goiter Due to Hypothyroidism

TheVisualMD

Thyroxine 3D Molecule

4:11

Thyroid problems - most common thyroid problems, symptoms and treatment

Healthchanneltv / cherishyourhealthtv/YouTube

1:55

Thyroid gland - What's the function of the thyroid?

Healthchanneltv / cherishyourhealthtv/YouTube

1:48

Thyroid Animation

Columbia University Department of Surgery/YouTube

4:03

Thyroid Gland, Hormones and Thyroid Problems, Animation

Alila Medical Media/YouTube

12:47

Thyroid Gland - Thyroid Hormones

Armando Hasudungan/YouTube

3:37

How does the thyroid manage your metabolism? - Emma Bryce

TED-Ed/YouTube

6:07

Understanding Thyroid Function Tests

AdonaiDEC/YouTube

1:56

T3 And T4, What Do They Do?

EmpowHER/YouTube

Woman's neck region with visible thyroid

TheVisualMD

Thyroxine

Benjah-bmm27

Treatment

Iodine Ion

Image by TheVisualMD

Iodine Ion

The trace mineral iodine is integral to thyroid hormones, which control several vital functions throughout the body. The Earth's oceans are by far the dominant source of iodine; consequently, iodine is also rich in the soil, groundwater, and air of coastline regions. But throughout much of the world, iodine deficiency is a widespread health problem.

Image by TheVisualMD

How Is Congenital Hypothyroidism Treated?

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatments may include the following:

Treatment with thyroid hormones
Limited soy and iron, as these can affect absorption of the thyroid hormone medications

Children who receive early and ongoing treatment for congenital hypothyroidism can have healthy growth and development; however, thyroid hormone levels will need to be checked throughout your child’s life.

Source: U.S. Health Resources & Services Administration

Statistics

Illustration of rare disease incidence

Image by mcmurryjulie/Pixabay

Illustration of rare disease incidence

Image by mcmurryjulie/Pixabay

How Common Is Congenital Hypothyroidism?

Congenital hypothyroidism affects an estimated 1 in 2,000 to 4,000 newborns. For reasons that remain unclear, congenital hypothyroidism affects more than twice as many females as males.

Source: MedlinePlus Genetics

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Congenital Hypothyroidism

Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). Over a thousand babies are born each year in the United States with this condition. It is nearly twice as common in females compared to males. Learn about causes and screening.

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