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Congenital hypothyroidism

Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent mental retardation. Treatment consists of a daily dose of thyroid hormone (thyroxine) by mouth. Because the treatment is simple, effective, and inexpensive, nearly all of the developed world practices newborn screening to detect and treat congenital hypothyroidism in the first weeks of life. more...

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Causes

Around the world, the most common cause of congenital hypothyroidism is iodine deficiency, but in most of the developed world and areas of adequate environmental iodine, cases are due to a mixture of known and unknown causes. Most commonly there is a defect of development of the thyroid gland itself, resulting in an absent (athyreosis) or underdeveloped (hypoplastic) gland. A hypoplastic gland may develop higher in the neck or even in the back of the tongue. A gland in the wrong place is referred to as ectopic, and an ectopic gland at the base or back of the tongue is a lingual thyroid. Some of these cases of developmentally abnormal glands result from genetic defects, and some are "sporadic," with no identifiable cause.

Congenital hypothyroidism can also occur due to genetic defects of thyroxine or triiodothyronine synthesis within a structurally normal gland. Among specific defects are thyrotropin (TSH) resistance, iodine trapping defect, organification defect, thyroglobulin, and iodotyrosine deiodinase deficiency. In a small proportion of cases of congenital hypothyroidism, the defect is due to a deficiency of thyroid stimulating hormone, either isolated or as part of congenital hypopituitarism.

In some instances, hypothyroidism detected by screening may be transient. The most common cause of this is the presence of maternal antibodies which temporarily impair thyroid function for several weeks.

Cretinism is an old term for the state of mental and physical retardation resulting from untreated congenital hypothyroidism, usually due to iodine deficiency from birth because of low iodine levels in the soil and local food sources. The term, like so many other 19th century medical terms, acquired pejorative connotations as it became used in lay speech. It is now rarely used by physicians.

Diagnostic evaluation

In the developed world, nearly all cases of congenital hypothyroidism are detected by the newborn screening program. These are based on measurement of TSH or thyroxine (T4) on the second or third day of life. If the TSH is high, or the T4 low, the infant's doctor and parents are called and a referral to a pediatric endocrinologist is recommended to confirm the diagnosis and initiate treatment. Often a technetium thyroid scan is performed to detect a structurally abnormal gland.

Treatment

The goal of newborn screening programs is to detect and start treatment within the first 1-2 weeks of life. Treatment consists of a daily dose of thyroxine, available as a small tablet. The generic name is levothyroxine, and several brands are available. Commonly used brands in North America are Synthroid, Levoxyl, Unithroid, and Levothroid. The tablet is crushed and given to the infant with a small amount of water or milk. The most commonly recommended dose range is 10-15 μg/kg daily, typically 37.5 or 44 μg.

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Hypothyroidism
From Gale Encyclopedia of Medicine, 4/6/01 by Maureen Haggerty

Definition

Hypothyroidism, or underactive thyroid, develops when the thyroid gland fails to produce or secrete as much thyroxine (T4) as the body needs. Because T4 regulates such essential functions as heart rate, digestion, physical growth, and mental development, an insufficient supply of this hormone can slow life-sustaining processes, damage organs and tissues in every part of the body, and lead to life-threatening complications.

Description

Hypothyroidism is one of the most common chronic diseases in the United States. Symptoms may not appear until years after the thyroid has stopped functioning and they are often mistaken for signs of other illnesses, menopause, or aging. Although this condition is believed to affect as many as 11 million adults and children, as many as two of every three people with hypothyroidism may not know they have the disease.

Nicknamed "Gland Central" because it influences almost every organ, tissue, and cell in the body, the thyroid is shaped like a butterfly and located just below the Adam's apple. The thyroid stores iodine the body gets from food and uses this mineral to create T4. Low T4 levels can alter weight, appetite, sleep patterns, body temperature, sex drive, and a variety of other physical, mental, and emotional characteristics.

There are three types of hypothyroidism. The most common is primary hypothyroidism, in which the thyroid doesn't produce an adequate amount of T4. Secondary hypothyroidism develops when the pituitary gland does not release enough of the thyroid-stimulating hormone (TSH) that prompts the thyroid to manufacture T4. Tertiary hypothyroidism results from a malfunction of the hypothalamus, the part of the brain that controls the endocrine system. Drug-induced hypothyroidism, an adverse reaction to medication, occurs in two of every 10,000 people, but rarely causes severe hypothyroidism.

Hypothyroidism is at least twice as common in women as it is in men. Although hypothyroidism is most common in women who are middle-aged or older, the disease can occur at any age. Newborn infants are tested for congenital thyroid deficiency (cretinism) using a test that measures the levels of thyroxine in the infant's blood. Treatment within the first few months of life can prevent mental retardation and physical abnormalities. Older children who develop hypothyroidism suddenly stop growing.

Factors that increase a person's risk of developing hypothyroidism include age, weight, and medical history. Women are more likely to develop the disease after age 50; men, after age 60. Obesity also increases risk. A family history of thyroid problems or a personal history of high cholesterol levels or such autoimmune diseases as lupus, rheumatoid arthritis, or diabetes can make an individual more susceptible to hypothyroidism.

Causes & symptoms

Hypothyroidism is most often the result of Hashimoto's disease, also known as chronicthyroiditis (inflammation of the thyroid gland). In this disease, the immune system fails to recognize that the thyroid gland is part of the body's own tissue and attacks it as if it were a foreign body. The attack by the immune system impairs thyroid function and sometimes destroys the gland. Other causes of hypothyroidism include:

  • Radiation. Radioactive iodine used to treat hyperthyroidism (overactive thyroid) or radiation treatments for head or neck cancers can destroy the thyroid gland.
  • Surgery. Removal of the thyroid gland because of cancer or other thyroid disorders can result in hypothyroidism.
  • Viruses and bacteria. Infections that depress thyroid hormone production usually cause permanent hypothyroidism.
  • Medication. Nitroprusside, lithium, or iodides can induce hypothyroidism. Because patients who use these medications are closely monitored by their doctors, this side effect is very rare.
  • Pituitary gland malfunction. This is a rare condition in which the pituitary gland fails to produce enough TSH to activate the thyroid's production of T4.
  • Congenital defect. One of every 4,000 babies is born without a properly functioning thyroid gland.
  • Diet. Because the thyroid makes T4 from iodine drawn from food, an iodine-deficient diet can cause hypothyroidism. Adding iodine to table salt and other common foods has eliminated iodine deficiency in the United States. Certain foods (cabbage, rutabagas, peanuts, peaches, soybeans, spinach) can interfere with thyroid hormone production.
  • Environmental contaminants. Certain man-made chemicals-such as PCBs-found in the local environment at high levels may also cause hypothyroidism.

Hypothyroidism is sometimes referred to as a "silent" disease because early symptoms may be so mild that no one realizes anything is wrong. Untreated symptoms become more noticeable and severe, and can lead to confusion and mental disorders, breathing difficulties, heart problems, fluctuations in body temperature, and death.

Someone who has hypothyroidism will probably have more than one of the following symptoms:

  • Fatigue
  • Decreased heart rate
  • Progressive hearing loss
  • Weight gain
  • Problems with memory and concentration
  • Depression
  • Goiter (enlarged thyroid gland)
  • Muscle pain or weakness
  • Loss of interest in sex
  • Numb, tingling hands
  • Dry skin
  • Swollen eyelids
  • Dryness, loss, or premature graying of hair
  • Extreme sensitivity to cold
  • Constipation
  • Irregular menstrual periods
  • Hoarse voice.

Hypothyroidism usually develops gradually. When the disease results from surgery or other treatment for hyperthyroidism, symptoms may appear suddenly and include severe muscle cramps in the arms, legs, neck, shoulders, and back.

It's important to see a doctor if any of these symptoms appear unexpectedly. People whose hypothyroidism remains undiagnosed and untreated may eventually develop myxedema. Symptoms of this rare but potentially deadly complication include enlarged tongue, swollen facial features, hoarseness, and physical and mental sluggishness.

Myxedema coma can cause unresponsiveness; irregular, shallow breathing; and a drop in blood pressure and body temperature. The onset of this medical emergency can be sudden in people who are elderly or have been ill, injured, or exposed to very cold temperatures; who have recently had surgery; or who use sedatives or anti-depressants. Without immediate medical attention, myxedema coma can be fatal.

Diagnosis

Diagnosis of hypothyroidism is based on the patient's observations, medical history, physical examination, and thyroid function tests. Doctors who specialize in treating thyroid disorders (endocrinologists) are most apt to recognize subtle symptoms and physical indications of hypothyroidism. A blood test known as a thyroid-stimulating hormone (TSH) assay, thyroid nuclear medicine scan, and thyroid ultrasound are used to confirm the diagnosis. A woman being tested for hypothyroidism should let her doctor know if she is pregnant or breastfeeding and all patients should be sure their doctors are aware of any recent procedures involving radioactive materials or contrast media.

The TSH assay is extremely accurate, but some doctors doubt the test's ability to detect mild hypothyroidism. They advise patients to monitor their basal (resting) body temperature for below-normal readings that could indicate the presence of hypothyroidism.

Treatment

Natural or synthetic thyroid hormones are used to restore normal (euthyroid) thyroid hormone levels. Synthetic hormones are more effective than natural substances, but it may take several months to determine the correct dosage. Patients start to feel better within 48 hours, but symptoms will return if they stop taking the medication.

Most doctors prescribe levothyroxine sodium tablets, and most people with hypothyroidism will take the medication for the rest of their lives. Aging, other medications, and changes in weight and general health can affect how much replacement hormone a patient needs, and regular TSH tests are used to monitor hormone levels. Patients should not switch from one brand of thyroid hormone to another without a doctor's permission.

Regular exercise and a high-fiber diet can help maintain thyroid function and prevent constipation.

Alternative treatment

Alternative treatments are primarily aimed at strengthening the thyroid and will not eliminate the need for thyroid hormone medications. Herbal remedies to improve thyroid function and relieve symptoms of hypothyroidism include bladder wrack (Fucus vesiculosus), which can be taken in capsule form or as a tea. Some foods, including cabbage, peaches, radishes, soybeans, peanuts, and spinach, can interfere with the production of thyroid hormones. Anyone with hypothyroidism may want to avoid these foods. The Shoulder Stand yoga position (at least once daily for 20 minutes) is believed to improve thyroid function.

Prognosis

Thyroid hormone replacement therapy generally maintains normal thyroid hormone levels unless treatment is interrupted or discontinued.

Prevention

Primary hypothyroidism can't be prevented, but routine screening of adults could detect the disease in its early stages and prevent complications.

Key Terms

Cretinism
Severe hypothyroidism that is present at birth.
Endocrine system
The network of glands that produce hormones and release them into the bloodstream. The thyroid gland is part of the endocrine system.
Hypothalamus
The part of the brain that controls the endocrine system.
Myxedema
A condition that can result from a thyroid gland that produces too little of its hormone. In addition to a decreased metabolic rate, symptoms may include anemia, slow speech, an enlarged tongue, puffiness of the face and hands, loss of hair, coarse and thickened skin, and sensitivity to cold.
Pituitary gland
Small, oval endocrine gland attached to the hypothalamus. The pituitary gland releases TSH, the hormone that activates the thyroid gland.
Thyroid-stimulating hormone (TSH)
A hormone secreted by the pituitary gland that controls the release of T by the thyroid gland.
Thyroxine (T)
Thyroid hormone that regulates many essential body processes.

Further Reading

For Your Information

    Books

  • The Editors of Time-Life Books. The Medical Advisor: The Complete Guide to Alternative and Conventional Treatments. Alexandria, VA: Time-Life Books, 1996.
  • Langer, Stephen, and James F. Scheer. Hypothyroidism: The Unsuspected Illness. Keats Publishing, 1995.
  • Rosenthal, M. Sara. The Thyroid Sourcebook: Everything You Need to Know. Lowell House, 1996.
  • Wood, Lawrence C., David S. Cooper, and E. Chester Ridgway. Your Thyroid: A Home Reference. Ballantine Books, 1996.

    Periodicals

  • Dranov, P. "Tired? Wired? It Could Be Your Thyroid." American Health (May 1994): 90-93.
  • Drexler, Madeline. "The Disease Doctors Miss." McCall's (October 1996): 112.
  • "Experts Urge Testing for Sluggish Thyroid." Tufts University Health & Nutrition Letter (March 1997): 1.
  • "Recognizing and Treating Thyroid Problems." Health After 50 (August 1996): 6.
  • "Underactive Thyroid" Mayo Clinic Health Letter (March 1996): 1-3.

    Organizations

  • American Thyroid Association. Montefiore Medical Center, 111 E. 210th St., Bronx, NY 10467.
  • Endocrine Society. 4350 East West Highway, Suite 500, Bethesda, MD 20814-4410. (301) 941-0200.
  • Thyroid Foundation of America, Inc. Ruth Sleeper Hall, RSL 350, Boston, MA 02114-2968. (800) 832-8321 or (617) 726-8500.
  • Thyroid Society for Education and Research. 7515 S. Main St., Suite 545, Houston, TX 77030. (800) THYROID or (713) 799-9909.

    Other

  • "AACE Guidelines for the Evaluation and Treatment of Hyperthyroidism and Hypothyroidism." http://www2.nsysu.edu.tw/hclam/hyperhyp.htm (13 December 1997).
  • Caroll, Linda. "Routine Screening for Thyroid Disorders Cost-Effective." http://www.pharmacy-web.com/WHP/InfoService/MedTribune/Abstract/M960723c.html (13 December 1997).
  • "EDRI Federal Project Inventory: Disruption of Thyroid Hormone Action by Environmental Agents - Impact on Brain Development." http://www.epa.gov/endocrine/ inventory/NTD-MIL3.html (13 December 1997).
  • "FAQ on Hashimoto's Thyroiditis." http://www.geocities.com/Athens/3626/hashimoto. html (13 December 1997).
  • "Hypothyroidism." http://www.cc.nih.gov/drd/test/lung-med/thyrtxt.htm (12 December 1997).
  • "Hypothyroidism." http://www.intelihealth.com (11 December 1997).
  • "Hypothyroidism Overview." http://ph.healthpark.com/mds/ov055.htm (14 December 1997).
  • Mickelson, Alana. "Unmasking Thyroid Disease." Stanford Medicine (Summer 1995). http://www.-med.stanford.edu/center/communications./Stanmed/Summer95/hyroid.html (13 December 1997).
  • "Thyroid Conditions." http://www.amwa-doc.org/thyroid.html (8 December 1997).
  • "Thyroid Disorders." http://cpmcnet.columbia.edu/texts/guide/hmg21_0012html (2 December 1997).

Gale Encyclopedia of Medicine. Gale Research, 1999.

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