Congenital hypothyroidism (patient information)

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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 my boby has congenital hypothyroidism and what are the symptoms of congenital hypothyroidism?

Some babies with congenital hypothyroidism do not appear any signs at birth. Some may have one or more of the following symptoms:

• Weight gain
• Puffy face
• Swollen tongue.
• Hoarse cry.
• Low muscle tone.
• Cold intolerance
• Persistent constipation
• Fatigue and weakness
• Little to no growth
• Neurological impairment

Who is at risk for congenital hypothyroidism?

Mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes result in congenital hypothyroidism.

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.

• Bone age test: In babies with hypothyroidism, they show an immature appearance.

When to seek urgent medical care?

Call your baby's health care provider if symptoms of congenital hypothyroidism appear. If your baby experiences either of the following symptoms, seeking urgent medical care as soon as possible.

• Neurological impairment
• Coma

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

• Rickets
• Down's syndrome
• Congenital megacolon

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