Congenital hypothyroidism (patient information)
For the WikiDoc page for this topic, click here
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Jinhui Wu, MD
Please Join in Editing This Page and Apply to be an Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.
What is congenital hypothyroidism?
Congenital hypothyroidism is a disorder that affects infants from birth and results from a partial or complete loss of thyroid function. Researches demonstrate mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes may be involved in the causes of congenital hypothyroidism. Usual signs and symptoms include increased birth weight, puffy face, swollen tongue, hoarse cry, low muscle tone, constipation, fatigue and weakness. Tests of serum thyroid-stimulating hormone (TSH) and T4 can tell the diagnosis. Treatment for congenital hypothyroidism is to replace the lacking thyroid hormone. Levothyroxine is the most commonly used medication for replacement. Without the complication of myxedema coma, many patients return to with proper treatment.
How do I know if I have congenital hypothyroidism and what are the symptoms of congenital hypothyroidism?
Symptoms of hypothyroidism vary from person to person. The following are some common symptoms of hypothyroidism.
- Fatigue and weakness
- Weight gain
- Puffy face, swollen tongue
- Cold intolerance
- Slowed heart rate
- Joint and muscle pain
- Constipation
- Thin, brittle hair or fingernails
- Decreased sweating
- Depression
- Neurological impairment
- Heavy or irregular menstrual periods and infertility
Who is at risk for congenital hypothyroidism?
- Inflammation of the thyroid gland, such as autoimmune or Hashimoto's thyroiditis, postpartum throiditis, viral thyroiditis
- Congenital defects
- Radiation and radioactive iodine: When patients were treated with neck cancer or hyperthyroidism, both radiation and radioactive iodine may also damage the thyroid glands.
- After surgical removal of part or all of the thyroid gland
- Drugs, such as amiodarone which is used to treat arrhythmia, propylthiouracil and methimazole, which are used to treat hyperthyroidism, Lithium.
How to know you have congenital hypothyroidism?
- Laboratory tests of determination thyroid function, including serum thyroid-stimulating hormone (TSH) and T4 test.
- TSH test: This test is the most accurate measure of thyroid function. General speaking, a TSH reading above normal means a person has hypothyroidism and a reading below normal means a person has hyperthyroidism.
- T4 test: This test measures the actual amount of circulating thyroid hormone in the blood. In hypothyroidism, the level of T4 in the blood is lower than normal.
- Blood tests: In patients with congenital hypothyroidism, the tests may demonstrate anemia on a complete blood count, increased cholesterol levels, increased liver enzymes, increased prolactin and low sodium.
- X-ray test: A chest x-ray may show an enlarged heart in patients with congenital hypothyroidism.
When to seek urgent medical care?
Call your health care provider if symptoms of congenital hypothyroidism develop. If you experience either of the following symptoms, seeking urgent medical care as soon as possible:
Treatment options
The purpose of treatment is to replace the lacking thyroid hormone. Levothyroxine is the most commonly used medication. When you are taking thyroid hormone medications, the following things are important to remember:
- Lifelong therapy is needed. Do NOT stop taking the medication when you feel better. Continue taking the medication under your doctor's direction.
- Tell your doctor when you want to change brands of thyroid medicine. Different brands of thyroid medicine may affect your blood level of thyroid hormone.
- Tell your dietary habits to the doctor, because some foods may also change your blood level of thyroid hormone.
- Drugs interaction: Thryoid medicine may work best on an empty stomach and when taken 1 hour before any other medications. Do NOT take thyroid hormone with calcium, iron, multivitamins, alumin hydroxide antacids, colestipol, or other medicines that bind bile acids, or fiber supplements.
- Tell your doctor if you have any symptoms of hyperthyroidism, such as restlessness or shakiness, sweating or rapid weight loss. Your doctor will check your blood levels of thyroid hormone and change the the dosage of your medication.
Diseases with similar symptoms
Where to find medical care for congenital hypothyroidism?
Directions to Hospitals Treating congenital hypothyroidism
Prevention of congenital hypothyroidism
There is no prevention for congenital hypothyroidism. Because gene mutations are the causes, screening tests in newborns can detect congenital hypothyroidism.
What to expect (Outook/Prognosis)?
Prognosis of congenital hypothyroidism depends on whether myxedema coma, one of complications occurs. Without myxedema coma, thyroid levels of most cases return to with proper treatment. Otherwise, myxedema coma may result in death.
Copyleft Sources
http://ghr.nlm.nih.gov/condition=congenitalhypothyroidism
http://www.magicfoundation.org/www/docs/114.125/congenital_hypothyroidism_hypothyroid.html