Todays Health

Childhood Brain and Spinal Cord Tumors Treatment

2011-10-16T14:28:00.000-04:00

Childhood Brain and Spinal Cord Tumors Treatment Overview (PDQ®) - National Cancer Institute

Key Points for This Section

A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord.
The brain controls many important body functions.
The spinal cord connects the brain with nerves in most parts of the body.
Brain and spinal cord tumors are a common type of childhood cancer.
There are different types of childhood brain and spinal cord tumors.
The cause of most childhood brain and spinal cord tumors is unknown.
The symptoms of childhood brain and spinal cord tumors are not the same in every child.
Tests that examine the brain and spinal cord are used to detect (find) childhood brain and spinal cord tumors.
Most childhood brain tumors are diagnosed and removed in surgery.
Some childhood brain and spinal cord tumors are diagnosed by imaging tests.
Certain factors affect prognosis (chance of recovery).

A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord.

There are many types of childhood brain and spinal cord tumors. The tumors are formed by the abnormal growth of cells and may begin in different areas of the brain or spinal cord. Together, the brain and spinal cord make up the central nervous system (CNS).

The tumors may be benign (not cancer) or malignant (cancer). Benign brain tumors grow and press on nearby areas of the brain. They rarely spread into other tissues. Malignant brain tumors are likely to grow quickly and spread into other brain tissue. When a tumor grows into or presses on an area of the brain, it may stop that part of the brain from working the way it should. Both benign and malignant brain tumors can cause symptoms and need treatment.

The brain controls many important body functions.

The brain has three major parts:

The cerebrum is the largest part of the brain. It is at the top of the head. The cerebrum controls thinking, learning, problem solving, emotions, speech, reading, writing, and voluntary movement.
The cerebellum, which is in the lower back of the brain (near the middle of the back of the head), controls movement, balance, and posture.
The brain stem connects the brain to the spinal cord. It is in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating.

Enlarge

Anatomy of the brain, showing the cerebrum, cerebellum, brain stem, and other parts of the brain.

Anatomy of the inside of the brain, showing the pineal and pituitary glands, optic nerve, ventricles (with cerebrospinal fluid shown in blue), and other parts of the brain.

The spinal cord connects the brain with nerves in most parts of the body.

The spinal cord is a column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. These membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a signal from the brain to cause muscles to move or from the skin to the brain about the sense of touch.

Brain and spinal cord tumors are a common type of childhood cancer.

Although cancer is rare in children, brain and spinal cord tumors are the third most common type of childhood cancer, after leukemia and lymphoma. Brain tumors can occur in both children and adults. Treatment for children is usually different than treatment for adults. (See the PDQ treatment summary on Adult Brain Tumors for more information.)

This summary describes the treatment of primary brain and spinal cord tumors (tumors that begin in the brain and spinal cord). Treatment of metastatic brain and spinal cord tumors, which are tumors formed by cancer cells that begin in other parts of the body and spread to the brain or spinal cord, is not covered in this summary.

There are different types of childhood brain and spinal cord tumors.

Childhood brain and spinal cord tumors are named based on the type of cell they formed in and where the tumor first formed in the CNS.

Astrocytomas

Childhood astrocytomas are tumors that form in cells called astrocytes. They can be low-grade or high-grade tumors. The grade of the tumor describes how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. High-grade astrocytomas are fast-growing, malignant tumors. Low-grade astrocytomas are slow-growing tumors that are less likely to be malignant. (See the PDQ summary on Childhood Astrocytomas Treatment for more information.)

Brain Stem Glioma

Childhood brain stem gliomas form in the brain stem (the part of the brain connected to the spinal cord). (See the PDQ summary on Childhood Brain Stem Glioma Treatment for more information.)

Central Nervous System Embryonal Tumors

Childhood CNS embryonal tumors form in brain and spinal cord cells when the fetus is beginning to develop. They include the following types of tumors:

Medulloblastoma.
CNS primitive neuroectodermal tumors (PNETs).
CNS atypical teratoid/rhabdoid tumors. (See the PDQ summary on Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor Treatment for more information.)

(See the PDQ summary on Childhood Central Nervous System Embryonal Tumors Treatment for more information.)

Central Nervous System Germ Cell Tumors

Childhood CNS germ cell tumors form in germ cells, which are cells that develop into sperm or ova (eggs). Germ cell tumors can be either benign or malignant. There are different types of childhood germ cell tumors:

Germinomas.
Non-germinomas:
- Embryonal carcinomas.
- Yolk sac tumors.
- Choriocarcinomas.
- Teratomas.
- Mixed germ cell tumors. A mixed germ cell tumor has two types of germ cells in it.

Germ cell brain tumors usually form in the center of the brain, near the pineal gland. The pineal gland is a tiny organ in the brain that makes melatonin, which is a substance that helps control the sleeping and waking cycle. Germ cell tumors can spread to other parts of the brain and spinal cord.

Central Nervous System Primitive Neuroectodermal Tumors

Childhood CNS primitive neuroectodermal tumors (PNETs) form in immature cells in the cerebrum. (See the PDQ treatment summary on Childhood Central Nervous System Embryonal Tumors Treatment for more information.)

Craniopharyngioma

Childhood craniopharyngiomas are tumors that usually form just above the pituitary gland. The pituitary gland is found in the center of the brain behind the back of the nose. It is about the size of a pea and controls many important body functions including growth. Craniopharyngiomas rarely spread, but may affect important areas of the brain, such as the pituitary gland. (See the PDQ summary on Childhood Craniopharyngioma Treatment for more information.)

Ependymoma

Childhood ependymomas are slow-growing tumors formed in cells that line the fluid -filled spaces in the brain and spinal cord. (See the PDQ summary on Childhood Ependymoma Treatment for more information.)

Ependymoblastoma

Ependymoblastomas are fast-growing, malignant tumors formed by cells that line the fluid -filled spaces in the brain and spinal cord. These are rare tumors that are most common in infants and young children. (See the PDQ summary on Childhood Central Nervous System Embryonal Tumors Treatment for more information.)

Malignant Glioma

Malignant gliomas are cancers of the brain that begins in glial cells (cells that surround and support nerve cells). Astrocytomas, oligodendrogliomas, and ependymomas are types of malignant gliomas. (See the PDQ summary on Childhood Astrocytomas Treatment for more information.)

Medulloblastoma

Childhood medulloblastomas form in the cerebellum. (See the PDQ summary on Childhood Central Nervous System Embryonal Tumors Treatment for more information.)

Medulloepithelioma

Medulloepitheliomas form in tissue made up of sensory cells that line tubelike spaces in the brain and spinal cord. These are rare tumors that are most common in infants and young children. They are usually malignant. (See the PDQ summary on Childhood Central Nervous System Embryonal Tumors Treatment for more information.)

Spinal Cord Tumors

Tumors of many different cell types may form in the spinal cord. Low-grade spinal cord tumors usually do not spread. High-grade spinal cord tumors may spread to other places in the spinal cord or brain. See the following PDQ summaries for more information:

Tumors of the Pineal Region

Pineal region tumors form in or near the pineal gland. The pineal gland is a tiny organ in the center of the brain. The gland makes melatonin, a substance that helps control our sleep cycle. (See the PDQ treatment summary on Childhood Central Nervous System Embryonal Tumors Treatment for more information.)

The cause of most childhood brain and spinal cord tumors is unknown.

The symptoms of childhood brain and spinal cord tumors are not the same in every child.

Headaches and other symptoms may be caused by childhood brain and spinal cord tumors. Other conditions may cause the same symptoms. A doctor should be consulted if any of the following problems occur:

Brain Tumors

Morning headache or headache that goes away after vomiting.
Frequent nausea and vomiting.
Vision, hearing, and speech problems.
Loss of balance and trouble walking.
Unusual sleepiness or change in activity level.
Unusual changes in personality or behavior.
Seizures.
Increase in the head size (in infants).

Spinal Cord Tumors

Back pain or pain that spreads from the back towards the arms or legs.
A change in bowel habits or trouble urinating.
Weakness in the legs.
Trouble walking.

In addition to these symptoms of brain and spinal cord tumors, some children are unable to reach certain growth and development milestones such as sitting up, walking, and talking in sentences.

Tests that examine the brain and spinal cord are used to detect (find) childhood brain and spinal cord tumors.

The following tests and procedures may be used:

Physical exam and history: An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient’s health habits and past illnesses and treatments will also be taken.
Neurological exam: A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a person’s mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam.
Serum tumor marker test: A procedure in which a sample of blood is examined to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers.
MRI (magnetic resonance imaging) with gadolinium: A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI).
CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.
Angiogram: A procedure to look at blood vessels and the flow of blood in the brain. A contrast dye is injected into the blood vessel. As the contrast dye moves through the blood vessel, x-rays are taken to see if there are any blockages.
PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do.

Most childhood brain tumors are diagnosed and removed in surgery.

If doctors think there might be a brain tumor, a biopsy may be done to remove a sample of tissue. For tumors in the brain, the biopsy is done by removing part of the skull and using a needle to remove a sample of tissue. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. The pathologist checks the cancer cells to find out the type and grade of brain tumor. The grade of the tumor is based on how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread.

The following tests may be done on the sample of tissue that is removed:

Immunohistochemistry study: A laboratory test in which a substance such as an antibody, dye, or radioisotope is added to a sample of cancer tissue to test for certain antigens. This type of study is used to tell the difference between different types of cancer.
Light and electron microscopy: A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells.
Cytogenetic analysis: A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes.

Some childhood brain and spinal cord tumors are diagnosed by imaging tests.

Sometimes a biopsy or surgery cannot be done safely because of where the tumor formed in the brain or spinal cord. These tumors are diagnosed based on the results of imaging tests and other procedures.

Certain factors affect prognosis (chance of recovery).

The prognosis (chance of recovery) depends on the following:

Whether there are any cancer cells left after surgery.
The type of tumor.
The location of the tumor.
The child's age.
Whether the tumor has just been diagnosed or has recurred (come back).

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What is a peptic ulcer?

2011-10-11T07:40:00.001-04:00

H. pylori bacteria can cause peptic ulcers—sores on the
lining of the stomach or duodenum.

A peptic ulcer is a sore on the lining of the stomach or duodenum, the beginning of the small intestine. Less commonly, a peptic ulcer may develop just above the stomach in the esophagus, the tube that connects the mouth to the stomach.

A peptic ulcer in the stomach is called a gastric ulcer. One that occurs in the duodenum is called a duodenal ulcer. People can have both gastric and duodenal ulcers at the same time. They also can develop peptic ulcers more than once in their lifetime.

Peptic ulcers are common. Each year in the United States, about half a million people develop a peptic ulcer.¹

¹Ramakrishnan K, Salinas RC. Peptic ulcer disease. American Family Physician. 2007;76(7):1005–1012.

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What causes peptic ulcers?

A bacterium called Helicobacter pylori (H. pylori) is a major cause of peptic ulcers. Nonsteroidal anti-inflammatory drugs (NSAIDs), such as aspirin and ibuprofen, are another common cause. Rarely, cancerous or noncancerous tumors in the stomach, duodenum, or pancreas cause ulcers.

Peptic ulcers are not caused by stress or eating spicy food, but both can make ulcer symptoms worse. Smoking and drinking alcohol also can worsen ulcers and prevent healing.

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What is H. pylori?

H. pylori is a type of bacteria—a germ that may cause infection. H. pylori infection is common, particularly in developing countries, and often begins in childhood. Symptoms usually don't occur until adulthood, although most people never have any symptoms.

H. pylori causes more than half of peptic ulcers worldwide.² The bacterium causes peptic ulcers by damaging the mucous coating that protects the stomach and duodenum. Damage to the mucous coating allows powerful stomach acid to get through to the sensitive lining beneath. Together, the stomach acid and H. pylori irritate the lining of the stomach or duodenum and cause an ulcer.

Yet, most people infected with H. pylori never develop ulcers. Why the bacterium causes ulcers in some people and not in others is not known. Most likely, development of ulcers depends on characteristics of the infected person; the type, or strain, of H. pylori present; and factors researchers have yet to discover.

²Helicobacter pylori and peptic ulcer disease; economics of peptic ulcer disease and H. pylori infection. Centers for Disease Control and Prevention website. www.cdc.gov/ulcer/economic.htm. Accessed February 23, 2009.

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How is H. pylori spread?

Researchers are not certain how H. pylori is transmitted, although they think it may be spread through contaminated food or water. People may pick up the bacterium from food that has not been washed well or cooked properly or from drinking water that has come from an unclean source.

Other research is exploring how infection spreads from an infected person to an uninfected person. Studies suggest that having contact with the stool or vomit of an infected person can spread H. pylori infection. And H. pylori has been found in the saliva of some infected people, which means infection could be spread through direct contact with saliva.

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What are the symptoms of a peptic ulcer?

Abdominal discomfort is the most common symptom of both duodenal and gastric ulcers. Felt anywhere between the navel and the breastbone, this discomfort usually

is a dull or burning pain
occurs when the stomach is empty—between meals or during the night
may be briefly relieved by eating food, in the case of duodenal ulcers, or by taking antacids, in both types of peptic ulcers
lasts for minutes to hours
comes and goes for several days or weeks

Other symptoms include

weight loss
poor appetite
bloating
burping
nausea
vomiting

Some people experience only mild symptoms or none at all.

Emergency Symptoms

A person who has any of the following symptoms should call a doctor right away:

sharp, sudden, persistent, and severe stomach pain
bloody or black stools
bloody vomit or vomit that looks like coffee grounds

These “alarm” symptoms could be signs of a serious problem, such as

bleeding—when acid or the peptic ulcer breaks a blood vessel
perforation—when the peptic ulcer burrows completely through the stomach or duodenal wall
obstruction—when the peptic ulcer blocks the path of food trying to leave the stomach

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How is an H. pylori-induced ulcer diagnosed?

Noninvasive Techniques

If a patient has peptic ulcer symptoms, the doctor first asks about use of over-the-counter and prescription NSAIDs. Patients who are taking an NSAID are asked to stop, reduce the dose, or switch to another medication.

Then the doctor tests to see if H. pylori is present. Testing is important because H. pylori-induced ulcers are treated differently than ulcers caused by NSAIDs.

Doctors use one of three simple, noninvasive tests to detect H. pylori in a patient's blood, breath, or stool. Because the breath test and stool test more accurately detect H. pylori than the blood test, some doctors prefer to use one of these two tests. Each test described below is easily performed, often in an outpatient setting such as a doctor's office or lab.

Blood test. A blood sample is taken from the patient's vein and tested for H. pylori antibodies. Antibodies are substances the body produces to fight invading harmful substances—called antigens—such as the H. pylori bacterium.

Urea breath test. The patient swallows a capsule, liquid, or pudding that contains urea “labeled” with a special carbon atom. After a few minutes, the patient breathes into a container, exhaling carbon dioxide. If the carbon atom is found in the exhaled breath, H. pylori is present, as this bacterium contains large amounts of urease, a chemical that breaks urea down into carbon dioxide and ammonia.

Stool antigen test. The patient provides a stool sample, which is tested for H. pylori antigens.

Invasive Techniques

If a patient has any alarm symptoms, the doctor orders an endoscopy or upper gastrointestinal (GI) series. Many doctors also recommend these tests for patients who first experience peptic ulcer symptoms around age 50. Often performed as outpatient procedures in a hospital, both procedures are painless and allow the doctor to look inside the patient's stomach and duodenum.

For an endoscopy, the patient is lightly sedated. The doctor passes an endoscope—a thin, lighted tube with a tiny camera on the end—into the patient's mouth and down the throat to the stomach and duodenum. With this tool, the doctor can closely examine the lining of the esophagus, stomach, and duodenum.

The doctor can use the endoscope to take photos of ulcers or remove a tiny piece of tissue—no bigger than a match head—to view with a microscope. This procedure is called a biopsy. The biopsied tissue is examined to see if H. pylori is present.

If an ulcer is bleeding, the doctor can use the endoscope to inject medicines that help the blood clot or to guide a heat probe that burns tissue to stop bleeding—a process called cauterization.

For an upper GI series, the patient drinks a white, chalky liquid called barium. The barium makes the esophagus, stomach, and duodenum and any ulcers show up on an x ray. Sedation is not necessary for this procedure.

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How is an H. pylori-induced ulcer treated?

Peptic ulcers caused by H. pylori are treated with drugs that kill the bacteria, reduce stomach acid, and protect the stomach and duodenal lining.

Antibiotics are used to kill H. pylori. Antibiotic regimens may differ throughout the world because some strains of H. pylori have become resistant to certain antibiotics—meaning that an antibiotic that once destroyed the bacterium is no longer effective. Doctors closely follow research on antibiotic treatments for H. pylori infection to know which treatment strategy will destroy which strain.

Medicines that reduce stomach acid include proton pump inhibitors (PPIs) and histamine receptor blockers (H2 blockers). Both acid-reducing medicines help relieve peptic ulcer pain after a few weeks and promote ulcer healing. PPIs and H2 blockers work in different ways:

PPIs suppress acid production by halting the mechanism that pumps acid into the stomach.
H2 blockers work by blocking histamine, which stimulates acid secretion.

While PPIs cannot kill H. pylori, research shows they do help fight the H. pylori infection. Research also shows that after 4 weeks of treatment, patients taking PPIs had earlier pain relief and better healing rates than those taking H2 blockers.

Bismuth subsalicylate (Pepto-Bismol) coats ulcers, protecting them from stomach acid. Although bismuth subsalicylate may kill H. pylori, it is used with—not in place of—antibiotics in some treatment regimens.

In the United States, clarithromycin-based triple therapy—triple therapy, for short—is the standard treatment for an ulcer caused by H. pylori. The doctor prescribes the antibiotic clarithromycin, a PPI, and the antibiotics amoxicillin or metronidazole for 10 to 14 days. Because research shows higher cure rates with 14 days of treatment, some doctors now prescribe triple therapy for this longer period.

Bismuth quadruple therapy is another treatment strategy used in the United States. The patient takes a PPI, bismuth subsalicylate, and the antibiotics tetracycline and metronidazole for 10 to 14 days. Bismuth quadruple therapy is used to treat patients in one of several situations, including if the patient

cannot take amoxicillin—a penicillin-like antibiotic—because of a penicillin allergy
has been treated before with a macrolide antibiotic, such as clarithromycin
is still infected with H. pylori because triple therapy failed to kill the bacteria

Triple therapy and bismuth quadruple therapy may cause nausea and other side effects, including

stomach upset
diarrhea
headache
a metallic taste
a darkened tongue or stools
flushing when drinking alcohol
sensitivity to the sun

Patients should discuss any bothersome side effects with their doctor, who may prescribe other medicines to kill the bacteria and cure the ulcer.

Although antibiotics can cure 80 to 90 percent of ulcers caused by H. pylori, eliminating the bacteria can be difficult. Patients must take all medicines exactly as prescribed, even when the peptic ulcer pain is gone.

At least 4 weeks after treatment, doctors test patients using a breath or stool test to be sure the H. pylori infection has been cured. Blood tests are not useful after treatment because a patient's blood can test positive for H. pylori even after the bacteria have been eliminated.

If infection is still present, ulcers could recur or, less commonly, stomach cancer could develop. Thus, some patients need to take more than one round of medicines to kill the H. pylori bacteria. Bismuth quadruple therapy is one of several treatments used after initial treatment has failed—a strategy called “rescue” or “salvage” therapy. In the second round of treatment, the doctor prescribes different antibiotics than those used in the first round. Amoxicillin, however, can be used again to treat H. pylori infection because H. pylori resistance to this antibiotic is rare.

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Can antacids or milk help a peptic ulcer heal?

An antacid may make the ulcer pain go away temporarily, but it will not kill H. pylori. People being treated for an H. pylori ulcer should check with their doctor before taking antacids. Some of the antibiotics used to kill H. pylori may not work as well if combined with an antacid.

People used to believe drinking milk helped peptic ulcers heal. But doctors know now that while milk may make an ulcer feel better briefly, it also increases stomach acid, which can make ulcers worse. Patients should talk with their doctor about drinking milk while an ulcer is healing.

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Can H. pylori infection be prevented?

No one knows for sure how H. pylori spreads, so prevention is difficult. Researchers are trying to develop a vaccine to prevent—and even cure—H. pylori infection. To help prevent infection, doctors advise people to

wash their hands with soap and water after using the bathroom and before eating
eat food that has been washed well and cooked properly
drink water from a clean, safe source

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Points to Remember

A peptic ulcer is a sore in the lining of the stomach or duodenum.
Most peptic ulcers are caused by H. pylori. Use of NSAIDs—such as aspirin and ibuprofen—is another common cause.
Neither stress nor spicy food causes ulcers. Smoking or drinking alcohol, however, each can worsen ulcers and prevent their healing.
The abdominal discomfort of peptic ulcers
– feels like a dull or burning pain
– occurs when the stomach is empty—between meals or during the night
– may be briefly relieved by eating food, in the case of duodenal ulcers, or by taking antacids, in both types of peptic ulcers
– lasts for minutes to hours
– comes and goes for several days or weeks
A combination of antibiotics and acid-reducing medicines is the most effective treatment for H. pylori-induced peptic ulcers.
Testing after treatment is needed to be sure the H. pylori infection is gone.
To help prevent an H. pylori infection, people should
– wash their hands after using the bathroom and before eating
– eat properly prepared food
– drink water from a clean, safe source

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Hope through Research

While H. pylori infection is becoming less common in developed countries, some strains of the bacteria have become resistant to antibiotics that are used to destroy it. Researchers have identified and continue to study new antibiotic combinations that can kill these types of H. pylori.

Other promising research may help identify treatments that

kill the H. pylori bacteria with fewer medicines in less time
use different antibiotic combinations in back-to-back treatment
better protect the stomach lining when eliminating H. pylori

Researchers also are studying

characteristics of H. pylori bacteria
traits of people who develop H. pylori ulcers
transmission of H. pylori infection
vaccines to prevent and cure H. pylori infection

Participants in clinical trials can play a more active role in their own health care, gain access to new research treatments before they are widely available, and help others by contributing to medical research. For information about current studies, visit www.ClinicalTrials.gov.

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For More Information

American College of Gastroenterology
P.O. Box 342260
Bethesda, MD 20827–2260
Phone: 301–263–9000
Internet: www.acg.gi.org

American Gastroenterological Association
4930 Del Ray Avenue
Bethesda, MD 20814
Phone: 301–654–2055
Fax: 301–654–5920
Email: member@gastro.org
Internet: www.gastro.org

You may also find additional information about this topic by visiting MedlinePlus at www.medlineplus.gov.

This publication may contain information about medications. When prepared, this publication included the most current information available. For updates or for questions about any medications, contact the U.S. Food and Drug Administration toll-free at 1–888–INFO–FDA (1–888–463–6332) or visit www.fda.gov. Consult your doctor for more information.

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Acknowledgments

Publications produced by the Clearinghouse are carefully reviewed by both NIDDK scientists and outside experts. This publication was reviewed by Sheila Crowe, M.D., and David Peura, M.D., University of Virginia School of Medicine, Charlottesville, VA.

Polycystic Ovary Syndrome (PCOS) information for patients

2011-10-02T10:46:00.001-04:00

What is PCOS?

PCOS is a condition in which a woman’s ovaries and, in some cases the adrenal glands, produce more androgens (a type of hormone) than normal. High levels of these hormones interfere with the development and release of eggs as part of ovulation. As a result, fluid-filled sacs or cysts can develop on the ovaries.

Because women with PCOS do not release eggs during ovulation, PCOS is the most common cause of female infertility.

How does PCOS affect fertility?

A woman's ovaries have follicles, which are tiny, fluid-filled sacs that hold the eggs. When an egg is mature, the follicle breaks open to release the egg so it can travel to the uterus for fertilization.

In women with PCOS, immature follicles bunch together to form large cysts or lumps. The eggs mature within the bunched follicles, but the follicles don't break open to release them.

As a result, women with PCOS often have menstrual irregularities, such as amenorrhea (they don’t get menstrual periods) or oligomenorrhea (they only have periods now and then). Because the eggs are not released, most women with PCOS have trouble getting pregnant.

What are the symptoms of PCOS?

In addition to infertility, women with PCOS may also have:

Pelvic pain
Hirsutism, or excess hair growth on the face, chest, stomach, thumbs, or toes
Male-pattern baldness or thinning hair
Acne, oily skin, or dandruff
Patches of thickened and dark brown or black skin

Also, women who are obese are more likely to have PCOS.

Although it is hard for women with PCOS to get pregnant, some do get pregnant, naturally or using assistive reproductive technology. Women with PCOS are at higher risk for miscarriage if they do become pregnant.

Women with PCOS are also at higher risk for associated conditions, such as:

Diabetes
Metabolic syndrome—sometimes called a precursor to diabetes, this syndrome indicates that the body has trouble regulating its insulin
Cardiovascular disease—including heart disease and high blood pressure

What is the treatment for PCOS?

There is no cure for PCOS, but many of the symptoms can often be managed. It is important to have PCOS diagnosed and treated early to help prevent associated problems.

There are medications that can help control the symptoms, such as birth control pills to regulate menstruation, reduce androgen levels, and clear acne. Other medications can reduce cosmetic problems, such as hair growth, and control blood pressure and cholesterol.

Lifestyle changes such as regular exercise can aid weight loss and help reduce blood sugar levels and regulate insulin levels more effectively. Weight loss can help lessen many of the health conditions associated with PCOS and can make symptoms be less severe or even disappear.

Surgical treatment may also be an option, but it is not recommended as the first course of treatment.

NICHD-funded research has also examined the effects of the anti-diabetes drug metformin on fertility in women with PCOS. To learn more about this research, check out the news releases about PCOS.

How is PCOS diagnosed?

Your health care provider will take a medical history and do a pelvic exam to feel for cysts on your ovaries. He or she may also do a vaginal ultrasound and recommend blood tests to measure hormone levels.

Other tests may include measuring levels of insulin, glucose, cholesterol, and triglycerides.

Turner Syndrome information for patients

2011-10-02T10:45:00.001-04:00

What is Turner syndrome?

Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems.

This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).

Turner syndrome is a chromosomal condition related to the X chromosome. [ghr.nlm.nih.gov]

Researchers have not yet determined which genes on the X chromosome are responsible for most signs and symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

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What are the symptoms of Turner syndrome?

Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt.

Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl's ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. This does not happen in most girls who have Turner syndrome. They do not start their periods or develop breasts without hormone treatment at the age of puberty.

Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal.

In early childhood, girls who have Turner syndrome may have frequent middle ear infections. Recurrent infections can lead to hearing loss in some cases.

Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills. Some girls, however, have problems with math, memory skills and fine-finger movements.

Additional symptoms of Turner syndrome include the following:

An especially wide neck (webbed neck) and a low or indistinct hairline.
A broad chest and widely spaced nipples.
Arms that turn out slightly at the elbow.
A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart).
A tendency to develop high blood pressure (so this should be checked regularly).
Minor eye problems that are corrected by glasses.
Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome.
The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement
Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes.
Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.

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How is Turner syndrome diagnosed?

A diagnosis of Turner syndrome may be suspected when there are a number of typical physical features observed such as webbed neck, a broad chest and widely spaced nipples. Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or swelling of the hands and feet.

The two main clinical features of Turner syndrome are short stature and the lack of the development of the ovaries.

Many girls are diagnosed in early childhood when a slow growth rate and other features are identified. Diagnosis sometimes takes place later when puberty does not occur.

Turner syndrome may be suspected in pregnancy during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to obtain cells from the unborn baby for chromosomal analysis. If a diagnosis is confirmed prenatally, the baby may be under the care of a specialist pediatrician immediately after birth.

Diagnosis is confirmed by a blood test, called a karyotype. This is used to analyze the chromosomal composition of the female. More information about this will be discussed in the section "Is Turner syndrome inherited?"

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What is the treatment for Turner syndrome?

During childhood and adolescence, girls may be under the care of a pediatric endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism.

Growth hormone injections are beneficial in some individuals with Turner syndrome. Injections often begin in early childhood and may increase final adult height by a few inches.

Estrogen replacement therapy is usually started at the time of normal puberty, around 12 years to start breast development. Estrogen and progesterone are given a little later to begin a monthly 'period,' which is necessary to keep the womb healthy. Estrogen is also given to prevent osteoporosis.

Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem. A heart expert (cardiologist) will assess and follow up any treatment necessary.

Girls who have Turner syndrome are more likely to get middle ear infections. Repeated infections may lead to hearing loss and should be evaluated by the pediatrician. An ear, nose and throat specialist (ENT) may be involved in caring for this health issue.

High blood pressure is quite common in women who have Turner syndrome. In some cases, the elevated blood pressure is due to narrowing of the aorta or a kidney abnormality. However, most of the time, no specific cause for the elevation is identified. Blood pressure should be checked routinely and, if necessary, treated with medication. Women who have Turner syndrome have a slightly higher risk of having an under active thyroid or developing diabetes. This should also be monitored during routine health maintenance visits and treated if necessary.

Regular health checks are very important. Special clinics for the care of girls and women who have Turner syndrome are available in some areas, with access to a variety of specialists. Early preventive care and treatment is very important.

Almost all women are infertile, but pregnancy with donor embryos may be possible.

Having appropriate medical treatment and support allows a woman with Turner syndrome to lead a normal, healthy and happy life.

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Is Turner syndrome inherited?

Turner syndrome is not usually inherited in families. Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the formation of either the eggs or sperm.

Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person's gender. Both of the sex chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X and a Y chromosome (written as XY). The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.

In Turner syndrome, the girl does not have the usual pair of two complete X chromosomes. The most common scenario is that the girl has only one X chromosome in her cells. Some girls with Turner syndrome do have two X chromosomes, but one of the X chromosomes is incomplete. In another scenario, the girl has some cells in her body with two X chromosomes, but other cells have only one. This is called mosaicism.

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NHGRI Clinical Research on Turner Syndrome

NHGRI is not currently conducting clinical research on Turner syndrome.

ClinicalTrials.gov provides information on clinical research studies. Currently, there are clinical trials at other institutes and organizations who are enrolling individuals with Turner syndrome. They include:
- Turner Syndrome: Genotype and Phenotype [clinicaltrials.gov]
- Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome [clinicaltrials.gov]
Current NHGRI Clinical Studies
Search ClinicalTrials.gov [clinicaltrials.gov]
Clinical Research FAQ

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Additional Resources for Turner Syndrome

Turner Syndrome [nichd.nih.gov]
From Genetics Home Reference
Turner Syndrome [ghr.nlm.nih.gov]
From Genetics Home Reference
Turner Syndrome [turners.nichd.nih.gov]
From the National Institute of Child Health and Development.
Turner's Syndrome [nlm.nih.gov]
From Medline Plus
Turner Syndrome [nlm.nih.gov]
More from Medline Plus
Turner Syndrome Society of the United States [turnersyndrome.org]
Encourages medical research, the dissemination of state-of-the-art TS information, and social support services to individuals, families, physicians and the general public.
The Magic Foundation: Turner Syndrome [magicfoundation.org]
A national non-profit organization created to provide support services for the families of children afflicted with a wide variety of disorders, syndromes or diseases that affect a child's growth.
Turner Syndrome [rarediseases.org]
From the National Organization for Rare Disorders
Health Supervision for Children With Turner Syndrome [pediatrics.aappublications.org]
An article from Pediatrics, the official journal of the American Academy of Pediatrics
Turner Syndrome [emedicine.medscape.com]
From eMedicine
Turner Syndrome [rarediseases.info.nih.gov]
Information from the Genetics and Rare Diseases Information Center.
Finding Reliable Health Information Online
A listing of information and links for finding comprehensive genetics health information online.

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Last Updated: September 26, 2011

Prolactinoma information for patients

2011-10-02T10:43:00.001-04:00

On this page:

What is a prolactinoma?

A prolactinoma is a benign-noncancerous-tumor of the pituitary gland that produces a hormone called prolactin. Prolactinomas are the most common type of pituitary tumor. Symptoms of prolactinoma are caused by hyperprolactinemia-too much prolactin in the blood-or by pressure of the tumor on surrounding tissues.

Prolactin stimulates the breast to produce milk during pregnancy. After giving birth, a mother’s prolactin levels fall unless she breastfeeds her infant. Each time the baby nurses, prolactin levels rise to maintain milk production.

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What is the pituitary gland?

The pituitary gland, sometimes called the master gland, plays a critical role in regulating growth and development, metabolism, and reproduction. It produces prolactin and other key hormones including

growth hormone, which regulates growth
adrenocorticotropin (ACTH), which stimulates the adrenal glands to produce cortisol, a hormone important in metabolism and the body's response to stress
thyrotropin, which signals the thyroid gland to produce thyroid hormone, also involved in metabolism and growth
luteinizing hormone and follicle-stimulating hormone, which regulate ovulation and estrogen and progesterone production in women and sperm formation and testosterone production in men

The pituitary gland sits in the middle of the head in a bony box called the sella turcica. The optic nerves sit directly above the pituitary gland. Enlargement of the gland can cause symptoms such as headaches or visual disturbances. Pituitary tumors may also impair production of one or more pituitary hormones, causing reduced pituitary function, also called hypopituitarism.

The pituitary gland sits in the sella turcica.

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How common is prolactinoma?

Although small benign pituitary tumors are fairly common in the general population, symptomatic prolactinomas are uncommon. Prolactinomas occur more often in women than men and rarely occur in children.

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What are the symptoms of prolactinoma?

In women, high levels of prolactin in the blood often cause infertility and changes in menstruation. In some women, periods may stop. In others, periods may become irregular or menstrual flow may change. Women who are not pregnant or nursing may begin producing breast milk. Some women may experience a loss of libido-interest in sex. Intercourse may become painful because of vaginal dryness.

In men, the most common symptom of prolactinoma is erectile dysfunction. Because men have no reliable indicator such as changes in menstruation to signal a problem, many men delay going to the doctor until they have headaches or eye problems caused by the enlarged pituitary pressing against nearby optic nerves. They may not recognize a gradual loss of sexual function or libido. Only after treatment do some men realize they had a problem with sexual function.

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What causes prolactinoma?

The cause of pituitary tumors remains largely unknown. Most pituitary tumors are sporadic, meaning they are not genetically passed from parents to their children.

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What else causes prolactin to rise?

In some people, high blood levels of prolactin can be traced to causes other than prolactinoma.

Prescription drugs. Prolactin secretion in the pituitary is normally suppressed by the brain chemical dopamine. Drugs that block the effects of dopamine at the pituitary or deplete dopamine stores in the brain may cause the pituitary to secrete prolactin. These drugs include older antipsychotic medications such as trifluoperazine (Stelazine) and haloperidol (Haldol); the newer antipsychotic drugs risperidone (Risperdal) and molindone (Moban); metoclopramide (Reglan), used to treat gastroesophageal reflux and the nausea caused by certain cancer drugs; and less often, verapamil, alpha-methyldopa (Aldochlor, Aldoril), and reserpine (Serpalan, Serpasil), used to control high blood pressure. Some antidepressants may cause hyperprolactinemia, but further research is needed.

Other pituitary tumors. Other tumors arising in or near the pituitary may block the flow of dopamine from the brain to the prolactin-secreting cells. Such tumors include those that cause acromegaly, a condition caused by too much growth hormone, and Cushing's syndrome, caused by too much cortisol. Other pituitary tumors that do not result in excess hormone production may also block the flow of dopamine.

Hypothyroidism. Increased prolactin levels are often seen in people with hypothyroidism, a condition in which the thyroid does not produce enough thyroid hormone. Doctors routinely test people with hyperprolactinemia for hypothyroidism.

Chest involvement. Nipple stimulation also can cause a modest increase in the amount of prolactin in the blood. Similarly, chest wall injury or shingles involving the chest wall may also cause hyperprolactinemia.

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How is prolactinoma diagnosed?

A doctor will test for prolactin blood levels in women with unexplained milk secretion, called galactorrhea, or with irregular menses or infertility and in men with impaired sexual function and, in rare cases, milk secretion. If prolactin levels are high, a doctor will test thyroid function and ask first about other conditions and medications known to raise prolactin secretion. The doctor may also request magnetic resonance imaging (MRI), which is the most sensitive test for detecting pituitary tumors and determining their size. MRI scans may be repeated periodically to assess tumor progression and the effects of therapy. Computerized tomography (CT) scan also gives an image of the pituitary but is less precise than the MRI.

The doctor will also look for damage to surrounding tissues and perform tests to assess whether production of other pituitary hormones is normal. Depending on the size of the tumor, the doctor may request an eye exam with measurement of visual fields.

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How is prolactinoma treated?

The goals of treatment are to return prolactin secretion to normal, reduce tumor size, correct any visual abnormalities, and restore normal pituitary function. In the case of large tumors, only partial achievement of these goals may be possible.

Medical Treatment

Because dopamine is the chemical that normally inhibits prolactin secretion, doctors may treat prolactinoma with the dopamine agonists bromocriptine (Parlodel) or cabergoline (Dostinex). Agonists are drugs that act like a naturally occurring substance. These drugs shrink the tumor and return prolactin levels to normal in approximately 80 percent of patients. Both drugs have been approved by the U.S. Food and Drug Administration for the treatment of hyperprolactinemia. Bromocriptine is the only dopamine agonist approved for the treatment of infertility. This drug has been in use longer than cabergoline and has a well-established safety record.

Nausea and dizziness are possible side effects of bromocriptine. To avoid these side effects, bromocriptine treatment must be started slowly. A typical starting dose is one-quarter to one-half of a 2.5 milligram (mg) tablet taken at bedtime with a snack. The dose is gradually increased every 3 to 7 days as needed and taken in divided doses with meals or at bedtime with a snack. Most people are successfully treated with 7.5 mg a day or less, although some people need 15 mg or more each day. Because bromocriptine is short acting, it should be taken either twice or three times daily.

Bromocriptine treatment should not be stopped without consulting a qualified endocrinologist-a doctor specializing in disorders of the hormone-producing glands. Prolactin levels rise again in most people when the drug is discontinued. In some, however, prolactin levels remain normal, so the doctor may suggest reducing or discontinuing treatment every 2 years on a trial basis.

Cabergoline is a newer drug that may be more effective than bromocriptine in normalizing prolactin levels and shrinking tumor size. Cabergoline also has less frequent and less severe side effects. Cabergoline is more expensive than bromocriptine and, being newer on the market, its long-term safety record is less well defined. As with bromocriptine therapy, nausea and dizziness are possible side effects but may be avoided if treatment is started slowly. The usual starting dose is .25 mg twice a week. The dose may be increased every 4 weeks as needed, up to 1 mg two times a week. Cabergoline should not be stopped without consulting a qualified endocrinologist.

Recent studies suggest prolactin levels are more likely to remain normal after discontinuing long-term cabergoline therapy than after discontinuing bromocriptine. More research is needed to confirm these findings.

In people taking cabergoline or bromocriptine to treat Parkinson's disease at doses more than 10 times higher than those used for prolactinomas, heart valve damage has been reported. Rare cases of valve damage have been reported in people taking low doses of cabergoline to treat hyperprolactinemia. Before starting these medications, the doctor will order an echocardiogram. An echocardiogram is a sonogram of the heart that checks the heart valves and heart function.

Because limited information exists about the risks of long-term, low-dose cabergoline use, doctors generally prescribe the lowest effective dose and periodically reassess the need for continuing therapy. People taking cabergoline who develop symptoms of shortness of breath or swelling of the feet should promptly notify their physician because these may be signs of heart valve damage.

Surgery

Surgery to remove all or part of the tumor should only be considered if medical therapy cannot be tolerated or if it fails to reduce prolactin levels, restore normal reproduction and pituitary function, and reduce tumor size. If medical therapy is only partially successful, it should be continued, possibly combined with surgery or radiation.

Most often, the tumor is removed through the nasal cavity. Rarely, if the tumor is large or has spread to nearby brain tissue, the surgeon will access the tumor through an opening in the skull.

The results of surgery depend a great deal on tumor size and prolactin levels as well as the skill and experience of the neurosurgeon. The higher the prolactin level before surgery, the lower the chance of normalizing serum prolactin. Serum is the portion of the blood used in measuring prolactin levels. In the best medical centers, surgery corrects prolactin levels in about 80 percent of patients with small tumors and a serum prolactin less than 200 nanograms per milliliter (ng/ml). A surgical cure for large tumors is lower, at 30 to 40 percent. Even in patients with large tumors that cannot be completely removed, drug therapy may be able to return serum prolactin to the normal range-20 ng/ml or less-after surgery. Depending on the size of the tumor and how much of it is removed, studies show that 20 to 50 percent will recur, usually within 5 years.

Because the results of surgery are so dependent on the skill and knowledge of the neurosurgeon, a patient should ask the surgeon about the number of operations he or she has performed to remove pituitary tumors and for success and complication rates in comparison to major medical centers. The best results come from surgeons who have performed hundreds or even thousands of such operations. To find a surgeon, contact The Pituitary Society (see For More Information).

Radiation

Rarely, radiation therapy is used if medical therapy and surgery fail to reduce prolactin levels. Depending on the size and location of the tumor, radiation is delivered in low doses over the course of 5 to 6 weeks or in a single high dose. Radiation therapy is effective about 30 percent of the time.

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How does prolactinoma affect pregnancy?

If a woman has a small prolactinoma, she can usually conceive and have a normal pregnancy after effective medical therapy. If she had a successful pregnancy before, the chance of her having more successful pregnancies is high.

A woman with prolactinoma should discuss her plans to conceive with her physician so she can be carefully evaluated prior to becoming pregnant. This evaluation will include an MRI scan to assess the size of the tumor and an eye examination with measurement of visual fields. As soon as a woman is pregnant, her doctor will usually advise her to stop taking bromocriptine or cabergoline. Although these drugs are safe for the fetus in early pregnancy, their safety throughout an entire pregnancy has not been established. Many doctors prefer to use bromocriptine in patients who plan to become pregnant because it has a longer record of safety in early pregnancy than cabergoline.

The pituitary enlarges and prolactin production increases during pregnancy in women without pituitary disorders. Women with prolactin-secreting tumors may experience further pituitary enlargement and must be closely monitored during pregnancy. Less than 3 percent of pregnant women with small prolactinomas have symptoms of tumor growth such as headaches or vision problems. In women with large prolactinomas, the risk of symptomatic tumor growth is greater, and may be as high as 30 percent.

Most endocrinologists see patients every 2 months throughout the pregnancy. A woman should consult her endocrinologist promptly if she develops symptoms of tumor growth-particularly headaches, vision changes, nausea, vomiting, excessive thirst or urination, or extreme lethargy. Bromocriptine or, less often, cabergoline treatment may be reinitiated and additional treatment may be required if the woman develops symptoms during pregnancy.

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How do oral contraceptives and hormone replacement therapy affect prolactinoma?

Oral contraceptives are not thought to contribute to the development of prolactinomas, although some studies have found increased prolactin levels in women taking these medications. Because oral contraceptives may produce regular menstrual bleeding in women who would otherwise have irregular menses due to hyperprolactinemia, prolactinoma may not be diagnosed until women stop oral contraceptives and find their menses are absent or irregular. Women with prolactinoma treated with bromocriptine or cabergoline may safely take oral contraceptives. Similarly, postmenopausal women treated with medical therapy or surgery for prolactinoma may be candidates for estrogen replacement therapy.

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Is osteoporosis a risk in women with high prolactin levels?

Women whose ovaries produce inadequate estrogen are at increased risk for osteoporosis. Hyperprolactinemia can reduce estrogen production. Although estrogen production may be restored after treatment for hyperprolactinemia, even a year or 2 without estrogen can compromise bone strength. Women should protect themselves from osteoporosis by increasing exercise and calcium intake through diet or supplements and by not smoking. Women treated for hyperprolactinemia may want to have periodic bone density measurements and discuss estrogen replacement therapy or other bone-strengthening medications with their doctor.

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Points to Remember

A prolactinoma is a benign tumor of the pituitary gland that produces the hormone prolactin. Prolactin stimulates the breast to produce milk during pregnancy.
In women, high levels of prolactin in the blood often cause infertility and changes in menstruation. Women who are not pregnant or nursing may begin producing breast milk. In men, the most common symptom of prolactinoma is erectile dysfunction.
Prolactinoma is diagnosed through a blood test. Additional tests rule out other causes of high prolactin levels, such as medications or thyroid problems. Magnetic resonance imaging (MRI) is then used to detect pituitary tumors and determine their size.
The first line of treatment is usually medication to shrink the tumor and return prolactin levels to normal. Sometimes surgery or radiation may be necessary.
Women with prolactinoma should be carefully evaluated before becoming pregnant and monitored during pregnancy by an endocrinologist.

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Hope through Research

Researchers are working to identify a gene or genes that may contribute to the development of pituitary tumors, including sporadic tumors. They are also investigating certain side effects of long-term treatment for prolactinomas with cabergoline.

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For More Information

American Association of Clinical Endocrinologists
245 Riverside Avenue, Suite 200
Jacksonville, FL 32202
Phone: 904-353-7878
Fax: 904-353-8185
Internet: www.aace.com

The Endocrine Society
8401 Connecticut Avenue, Suite 900
Chevy Chase, MD 20815-5817
Phone: 1-888-363-6274 or 301-941-0200
Fax: 301-941-0259
Internet: www.endo-society.org

The Pituitary Society
VA Medical Center
423 East 23rd Street, Room 16048aW
New York, NY 10010
Phone: 212-263-6772
Fax: 212-447-6219
Internet: www.pituitarysociety.org

You may also find additional information about this topic by visiting MedlinePlus at www.medlineplus.gov.

This publication may contain information about medications. When prepared, this publication included the most current information available. For updates or for questions about any medications, contact the U.S. Food and Drug Administration toll-free at 1-888-INFO-FDA (1-888-463-6332) or visit www.fda.gov. Consult your doctor for more information.

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Acknowledgments

Publications produced by the NIDDK are carefully reviewed by both NIDDK scientists and outside experts. This publication was reviewed by Michael O. Thorner, M.B., D.Sc., University of Virginia Health System, and Shlomo Melmed, M.D., Cedars-Sinai Health System.

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National Endocrine and Metabolic Diseases Information Service

6 Information Way
Bethesda, MD 20892–3569
Phone: 1–888–828–0904
TTY: 1–866–569–1162
Fax: 703–738–4929
Email: endoandmeta@info.niddk.nih.gov
Internet: www.endocrine.niddk.nih.gov

The National Endocrine and Metabolic Diseases Information Service is an information dissemination service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). The NIDDK is part of the National Institutes of Health, which is part of the U.S. Department of Health and Human Services.

The NIDDK conducts and supports biomedical research. As a public service, the NIDDK has established information services to increase knowledge and understanding about health and disease among patients, health professionals and the public.

This publication is not copyrighted. The NIDDK encourages users of this publication to duplicate and distribute as many copies as desired.

NIH Publication No. 09-3924
May 2009

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The National Endocrine and Metabolic Diseases Information Service is a service of the National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health.

National Endocrine and Metabolic Diseases Information Service
6 Information Way
Bethesda, MD 20892-3569
Phone: 1-888-828-0904
TTY: 1-866-569-1162
Fax: 1-703-738-4929
Email: endoandmeta@info.niddk.nih.gov
Internet: www.endocrine.niddk.nih.gov

Privacy Statement | Disclaimers | Accessibility | PDF versions require the fre

Hashimotos Disease Information for patients

2011-10-02T10:42:00.001-04:00

What is Hashimoto's disease?

Hashimoto's disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, is a form of chronic inflammation of the thyroid gland. The inflammation results in damage to the thyroid gland and reduced thyroid function or "hypothyroidism," meaning the gland doesn't make enough thyroid hormone for the needs of the body. Hashimoto's disease is the most common cause of hypothyroidism in the United States.

The thyroid is a small, butterfly-shaped gland in the front of the neck below the larynx, or voice box. The thyroid gland makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). Thyroid hormones circulate throughout the body in the bloodstream and act on virtually every tissue and cell in the body. These hormones affect metabolism, brain development, breathing, heart rate, nervous system functions, body temperature, muscle strength, skin moisture levels, menstrual cycles, weight, cholesterol levels, and more.

Thyroid hormone production is regulated by another hormone called thyroid-stimulating hormone (TSH). TSH is made by the pituitary gland, a pea-sized gland located in the brain. When thyroid hormone levels in the blood are low, the pituitary releases more TSH. When thyroid hormone levels are high, the pituitary responds by dropping TSH production.

The thyroid gland's production of thyroid hormones (T3 and T4) is triggered by thyroid-stimulating hormone (TSH), which is made by the pituitary gland.

Hashimoto's disease is an autoimmune disorder, meaning the body's immune system attacks its own healthy cells and tissues. In Hashimoto's disease, the immune system makes antibodies that attack cells in the thyroid and interfere with their ability to produce thyroid hormone. Large numbers of white blood cells called lymphocytes accumulate in the thyroid. Lymphocytes make the antibodies that drive the autoimmune process.

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What are the symptoms of Hashimoto's disease?

Many people with Hashimoto's disease have no symptoms at first. As the disease slowly progresses, the thyroid usually enlarges and may cause the front of the neck to look swollen. The enlarged gland, called a goiter, may create a feeling of fullness in the throat but is usually not painful. After years, or even decades, the damage to the thyroid causes it to shrink and the goiter to disappear.

Not everyone with Hashimoto's disease develops hypothyroidism. For those who do, the hypothyroidism may be subclinical—mild and without symptoms. Other people have one or more of these common symptoms of hypothyroidism:

fatigue
weight gain
cold intolerance
joint and muscle pain
constipation
dry, thinning hair
heavy or irregular menstrual periods and impaired fertility
depression
a slowed heart rate

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Who is likely to develop Hashimoto's disease?

Hashimoto's disease is about seven times more common in women than men. Although it often occurs in adolescent or young women, the disease more commonly appears between 40 and 60 years of age.¹ Hashimoto's disease tends to run in families. Scientists are working to identify the gene or genes that cause the disease to be passed from one generation to the next. Possible environmental influences are also being studied. For example, researchers have found that excess iodine consumption may inhibit thyroid hormone production in susceptible individuals. Certain drugs or viral infections may also contribute to autoimmune thyroid diseases.

People with other autoimmune disorders are more likely to develop Hashimoto's disease and vice versa. These disorders include

vitiligo, a condition in which some areas of the skin lose their natural color
rheumatoid arthritis
Addison's disease, in which the adrenal glands are damaged and cannot produce enough of certain critical hormones
type 1 diabetes
pernicious anemia, a type of anemia caused by inadequate vitamin B12 in the body

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How is Hashimoto's disease diagnosed?

Diagnosis begins with a physical examination and medical history. An enlarged thyroid gland may be detectable during a physical exam and symptoms may suggest hypothyroidism. Doctors will then do several blood tests to confirm the diagnosis.

The ultrasensitive TSH test is usually the first test performed. This blood test is the most accurate measure of thyroid activity available. Generally, a TSH reading above normal means a person has hypothyroidism. In people who produce too little thyroid hormone, the pituitary makes TSH continuously, trying to get the thyroid to produce more thyroid hormone.

The T4 test measures the actual amount of circulating thyroid hormone in the blood. In subclinical hypothyroidism, the level of T4 in the blood is normal, but as the disease progresses, T4 levels drop below normal.

The antithyroid peroxidase (anti-TPO) antibody test looks for the presence of thyroid autoantibodies. Most people with Hashimoto's disease have these antibodies, but people whose hypothyroidism is caused by other conditions do not.

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How is Hashimoto's disease treated?

Treatment generally depends on whether the thyroid is damaged enough to cause hypothyroidism. In the absence of hypothyroidism, some doctors treat Hashimoto’s disease to reduce the size of the goiter. Others choose not to treat the disease and simply monitor their patients for disease progression.

Hashimoto's disease, with or without hypothyroidism, is treated with synthetic thyroid hormone. Doctors prefer to use synthetic T4 such as Synthroid rather than synthetic T3 because T4 stays in the body longer, ensuring a steady supply of thyroid hormone throughout the day. The so-called "natural" thyroid preparations made with desiccated animal thyroid are rarely prescribed today.

The exact dose of synthetic thyroid hormone depends on a person's age and weight; the severity of the hypothyroidism, if present; the presence of other health problems; and the use of other medications such as cholesterol-lowering drugs that could interfere with the action of synthetic thyroid hormone.

Doctors routinely test the blood of patients taking synthetic thyroid hormone and make dosage adjustments as necessary. A normal, healthy thyroid and metabolic state can be restored with the use of synthetic thyroid hormone.

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Points to Remember

Hashimoto's disease is an autoimmune disease that causes chronic inflammation of the thyroid gland.
Hashimoto's disease is the most common cause of hypothyroidism- when the thyroid gland doesn't make enough thyroid hormone for the body's needs-in the United States and most often affects women between the ages of 40 and 60.
Symptoms of Hashimoto's disease may include goiter, a feeling of fullness in the throat, fatigue, weight gain, cold intolerance, and a slowed heart rate.
Hashimoto's disease may not always need treatment. When it does, it is treated with synthetic thyroid hormone.

For more information about hypothyroidism, see the National Endocrine and Metabolic Diseases Information Service's fact sheet Hypothyroidism.

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Hope through Research

Researchers are working to identify the genes that make some people susceptible to autoimmune thyroid diseases. Other studies are examining the cellular activities that trigger lymphocyte invasion of the thyroid and potential therapies to interrupt these processes.

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For More Information

American Academy of Otolaryngology-Head and Neck Surgery
1650 Diagonal Road
Alexandria, VA 22314-2857
Phone: 703-836-4444
Internet: www.entnet.org

American Association of Clinical Endocrinologists
245 Riverside Avenue, Suite 200
Jacksonville, FL 32202
Phone: 904-353-7878
Fax: 904-353-8185
Email: info@aace.com
Internet: www.aace.com

American Thyroid Association
6066 Leesburg Pike, Suite 550
Falls Church, VA 22041
Phone: 1-800-THYROID (849-7643) or 703-998-8890
Fax: 703-998-8893
Email: admin@thyroid.org
Internet: www.thyroid.org

The Endocrine Society
8401 Connecticut Avenue, Suite 900
Chevy Chase, MD 20815
Phone: 1-888-363-6274 or 301-941-0200
Fax: 301-941-0259
Email: societyservices@endo-society.org
Internet: www.endo-society.org

The Hormone Foundation
8401 Connecticut Avenue, Suite 900
Chevy Chase, MD 20815-5817
Phone: 1-800-HORMONE (467-6663)
Fax: 301-941-0259
Email: hormone@endo-society.org
Internet: www.hormone.org

You may also find additional information about this topic by visiting MedlinePlus at www.medlineplus.gov.

This publication may contain information about medications. When prepared, this publication included the most current information available. For updates or for questions about any medications, contact the U.S. Food and Drug Administration toll-free at 1-888-INFO-FDA (1-888-463-6332) or visit www.fda.gov. Consult your doctor for more information.

[Top]

The National Endocrine and Metabolic Diseases Information Service

6 Information Way
Bethesda, MD 20892–3569
Phone: 1–888–828–0904
TTY: 1–866–569–1162
Fax: 1–703–738–4929
Email: endoandmeta@info.niddk.nih.gov
Internet: www.endocrine.niddk.nih.gov

Holmes-Adie syndrome

2011-09-25T18:58:00.001-04:00

Holmes-Adie syndrome (HAS) is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. HAS is thought to be the result of a viral or bacterial infection that causes inflammation and damage to neurons in the ciliary ganglion, an area of the brain that controls eye movements, and the spinal ganglion, an area of the brain involved in the response of the autonomic nervous system. HAS begins gradually in one eye, and often progresses to involve the other eye. At first, it may only cause the loss of deep tendon reflexes on one side of the body, but then progress to the other side. The eye and reflex symptoms may not appear at the same time. People with HAS may also sweat excessively, sometimes only on one side of the body. The combination of these 3 symptoms – abnormal pupil size, loss of deep tendon reflexes, and excessive sweating – is usually called Ross’s syndrome, although some doctors will still diagnose the condition as a variant of HAS. Some individuals will also have cardiovascular abnormalities. The HAS symptoms can appear on their own, or in association with other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in young women. It is rarely an inherited condition.

Is there any treatment?

Doctors may prescribe reading glasses to compensate for impaired vision in the affected eye, and pilocarpine drops to be applied 3 times daily to constrict the dilated pupil. Thoracic sympathectomy, which severs the involved sympathetic nerve, is the definitive treatment for excessive sweating.

What is the prognosis?

Holmes-Adie syndrome is not life-threatening or disabling. The loss of deep tendon reflexes is permanent. Some symptoms of the disorder may progress. For most individuals, pilocarpine drops and glasses will improve vision.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to HAS in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders, such as HAS.

NIH Patient Recruitment for Holmes-Adie syndrome Clinical Trials

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated September 27, 2010

Amblyopia

2011-09-25T18:52:00.001-04:00

Amblyopia Defined

What is amblyopia?

The brain and the eye work together to produce vision. Light enters the eye and is changed into nerve signals that travel along the optic nerve to the brain. Amblyopia is the medical term used when the vision in one of the eyes is reduced because the eye and the brain are not working together properly. The eye itself looks normal, but it is not being used normally because the brain is favoring the other eye. This condition is also sometimes called lazy eye.

How common is amblyopia?

Amblyopia is the most common cause of visual impairment in childhood. The condition affects approximately 2 to 3 out of every 100 children. Unless it is successfully treated in early childhood, amblyopia usually persists into adulthood, and is the most common cause of monocular (one eye) visual impairment among children and young and middle-aged adults.

Cause

What causes amblyopia?

Amblyopia may be caused by any condition that affects normal visual development or use of the eyes. Amblyopia can be caused by strabismus, an imbalance in the positioning of the two eyes. Strabismus can cause the eyes to cross in (esotropia) or turn out (exotropia). Sometimes amblyopia is caused when one eye is more nearsighted, farsighted, or astigmatic than the other eye. Occasionally, amblyopia is caused by other eye conditions such as cataract.

Treatment

How is amblyopia treated in children?

Treating amblyopia involves making the child use the eye with the reduced vision (weaker eye). Currently, there are two ways used to do this:

Atropine

A drop of a drug called atropine is placed in the stronger eye once a day to temporarily blur the vision so that the child will prefer to use the eye with amblyopia. Treatment with atropine also stimulates vision in the weaker eye and helps the part of the brain that manages vision develop more completely.

Patching

An opaque, adhesive patch is worn over the stronger eye for weeks to months. This therapy forces the child to use the eye with amblyopia. Patching stimulates vision in the weaker eye and helps the part of the brain that manages vision develop more completely.

Previously, eye care professionals often thought that treating amblyopia in older children would be of little benefit. However, surprising results from a nationwide clinical trial show that many children age seven through 17 with amblyopia may benefit from treatments that are more commonly used on younger children. This study shows that age alone should not be used as a factor to decide whether or not to treat a child for amblyopia.

Can amblyopia be treated in adults?

Studies are very limited at this time and scientists don’t know what the success rate might be for treating amblyopia in adults. During the first six to nine years of life, the visual system develops very rapidly. Complicated connections between the eye and the brain are created during that period of growth and development. Scientists are exploring whether treatment for amblyopia in adults can improve vision.

Current Research

What research is being done?

Findings from the clinical study, An Evaluation Of Treatment Of Amblyopia In Children 7 To (less than) 18 Years Old (ATS3), show that many children age seven through 17 with amblyopia (lazy eye) may benefit from treatments that are more commonly used on younger children. Previously, eye care professionals often thought that treating amblyopia in older children would be of little benefit. Read more about the ATS3.

The NEI is currently supporting the Amblyopia Treatment Study: Occlusion Versus Pharmacologic Therapy for Moderate Amblyopia (ATS) to determine whether patching or eyedrops is a better treatment for amblyopia. Recent results for the ATS found that the atropine eyedrops, when placed in the unaffected eye once a day, work as well as eye patching and may encourage better compliance. The study was conducted at 47 clinical sites throughout North America. Read more about the ATS.

In addition, A Randomized Trial Comparing Part-time Versus Minimal-time Patching for Moderate Amblyopia (Two v. Six) is being conducted to determine whether the visual acuity improvement obtained with part-time (6 hours) patching is equivalent to the visual acuity improvement obtained with minimal patching (2 hours) for moderate amblyopia. Recent findings show that patching the unaffected eye of children with moderate amblyopia for two hours daily works as well as patching the eye for six hours. Shorter patching time should lead to better compliance with treatment and improved quality of life for children with amblyopia. Read more about the Two v. Six study.

The NEI is also supporting other clinical studies on amblyopia.

More Information

Content last reviewed in September 2009.

The National Eye Institute (NEI) is part of the National Institutes of Health (NIH) and is the Federal government's lead agency for vision research that leads to sight-saving treatments and plays a key role in reducing visual impairment and blindness.

What is Pelizaeus-Merzbacher Disease?

2011-09-25T18:16:00.000-04:00

What is Pelizaeus-Merzbacher Disease?

Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1). PMD is inherited as an X-linked recessive trait; the affected individuals are male and the mothers are carriers of the PLP1 mutation. Severity and onset of the disease ranges widely, depending on the type of PLP1 mutation. PMD is one of a spectrum of diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span a continuum of neurologic symptoms that range from severe central nervous system involvement (PMD) to progressive weakness and stiffness of the legs (SPG2).
There are four general classifications within this spectrum of diseases. In order of severity, they are:

Connatal PMD, which is the most severe type and involves delayed mental and physical development and severe neurological symptoms;
Classic PMD, in which the early symptoms include muscle weakness, involuntary movements of the eyes (nystagmus), and delays in motor development within the first year of life;
Complicated SPG2, which features motor development issues and brain involvement, and,
Pure SPG2, which includes cases of PMD that do not have neurologic complications.

Noticeable changes in the extent of myelination can be detected by MRI analyses of the brain. Additional symptoms of PMD may include slow growth, tremor, failure to develop normal control of head movement, and deteriorating speech and mental function.

Is there any treatment?

There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive and may include medication for movement disorders.

What is the prognosis?

The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death. On the other end of the disease spectrum, individuals with the mild form, in which spastic paraplegia is the chief symptom, may have nearly normal activity and life span.

What research is being done?

NINDS supports research on gene-linked disorders, including the leukodystrophies. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and ultimately cure them.

NIH Patient Recruitment for Pelizaeus-Merzbacher Disease Clinical Trials

Organizations

United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 office@ulf.org http://www.ulf.org Tel: 815-895-3211 800-728-5483 Fax: 815-895-2432	Hunter's Hope Foundation [A Leukodystrophy Resource] P.O. Box 643 Orchard Park, NY 14127 info@huntershope.org http://www.huntershope.org Tel: 716-667-1200 877-984-HOPE (-4673) Fax: 716-667-1212
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291	Myelin Project P.O. Box 39 Pacific Palisades, CA 90272 margaret.weis@myelin.org http://www.myelin.org Tel: 800-869-3546 310-459-1071 Fax: 310-230-4298
PMD Foundation (Pelizaeus-Merzbacher disease) 1307 White Horse Road, Suite 603 Voorhees, NJ 08043 jeffleonard@pmdfoundation.org http://www.pmdfoundation.org Tel: 609-443-9623

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated September 16, 2008

Krabbe Disease

2011-09-25T18:14:00.000-04:00

Table of Contents (click to jump to sections)

What is Krabbe Disease?
Is there any treatment?
What is the prognosis?
What research is being done?
Clinical Trials
Organizations
Additional resources from MEDLINEplus

What is Krabbe Disease?

Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells. Krabbe disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe deterioration of mental and motor skills. Myelin, which lends its color to the “white matter” of the brain, is a complex substance made up of at least 10 different enzymes. Each of the leukodystrophies affects one (and only one) of these substances. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness.

Is there any treatment?

There is no cure for Krabbe disease. Results of a very small clinical trial of patients with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Results also showed that disease progression stabilized faster in patients who receive cord blood compared to those who receive adult bone marrow. Bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.

What is the prognosis?

Infantile Krabbe disease is generally fatal before age 2. Prognosis may be significantly better for children who receive umbilical cord blood stem cells prior to disease onset or early bone marrow transplantation. Persons with juvenile- or adult-onset cases of Krabbe disease generally have a milder course of the disease and live significantly longer.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research on the lipid storage diseases in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.

NIH Patient Recruitment for Krabbe Disease Clinical Trials

Organizations

United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 office@ulf.org http://www.ulf.org Tel: 815-895-3211 800-728-5483 Fax: 815-895-2432	Hunter's Hope Foundation [A Leukodystrophy Resource] P.O. Box 643 Orchard Park, NY 14127 info@huntershope.org http://www.huntershope.org Tel: 716-667-1200 877-984-HOPE (-4673) Fax: 716-667-1212
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291	Myelin Project P.O. Box 39 Pacific Palisades, CA 90272 margaret.weis@myelin.org http://www.myelin.org Tel: 800-869-3546 310-459-1071 Fax: 310-230-4298

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated June 13, 2011

Synonym(s): Globoid Cell Leukodystrophy

Adrenoleukodystrophy

2011-09-25T18:11:00.001-04:00

What is Adrenoleukodystrophy?

Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. People with ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex because they do not produce the enzyme that breaks down these fatty acids in the normal manner. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of ALD. ALD has two subtypes. The most common is the X-linked form (X-ALD), which involves an abnormal gene located on the X-chromosome. Women have two X-chromosomes and are the carriers of the disease, but since men only have one X-chromosome and lack the protective effect of the extra X-chromosome, they are more severely affected. Onset of X-ALD can occur in childhood or in adulthood. The childhood form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. In the milder adult-onset form, which typically begins between ages 21 and 35, symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. A mild form of ALD is occasionally seen in women who are carriers of the disorder. Symptoms include progressive stiffness, weakness or paralysis of the lower limbs, ataxia, excessive muscle tone, mild peripheral neuropathy, and urinary problems.

Is there any treatment?

Adrenal function must be tested periodically in all patients with ALD. Treatment with adrenal hormones can be lifesaving. Symptomatic and supportive treatments for ALD include physical therapy, psychological support, and special education. Recent evidence suggests that a mixture of oleic acid and erucic acid, known as "Lorenzo's Oil," administered to boys with X-ALD can reduce or delay the appearance of symptoms. Bone marrow transplants can provide long-term benefit to boys who have early evidence of X-ALD, but the procedure carries risk of mortality and morbidity and is not recommended for those whose symptoms are already severe or who have the adult-onset or neonatal forms. Oral administration of docosahexanoic acid (DHA) may help infants and children with neonatal ALD.

What is the prognosis?

Prognosis for patients with ALD is generally poor due to progressive neurological deterioration. Death usually occurs within 1 to 10 years after the onset of symptoms.

What research is being done?

The NINDS supports research on genetic disorders such as ALD. The aim of this research is to find ways to prevent, treat, and cure these disorders. Intensive basic research has proposed two new approaches, 4-phenylbutyrate and lovastatin, which could potentially lower levels of VLCFA in the brain. Therapeutic trials for both agents are planned.

NIH Patient Recruitment for Adrenoleukodystrophy Clinical Trials

Organizations

National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291	National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite 204 Boston, MA 02135 info@ntsad.org http://www.ntsad.org Tel: 800-90-NTSAD (906-8723) Fax: 617-277-0134
United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 office@ulf.org http://www.ulf.org Tel: 815-895-3211 800-728-5483 Fax: 815-895-2432	Myelin Project P.O. Box 39 Pacific Palisades, CA 90272 margaret.weis@myelin.org http://www.myelin.org Tel: 800-869-3546 310-459-1071 Fax: 310-230-4298

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated March 18, 2009

PKU; Neonatal phenylketonuria

2011-09-25T18:08:00.001-04:00

A.D.A.M. Medical Encyclopedia.

Phenylketonuria

PKU; Neonatal phenylketonuria

Last reviewed: June 17, 2011.

Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.

Causes, incidence, and risk factors

Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait.

Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein.

Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage.

Symptoms

Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.

Other symptoms may include:

Delayed mental and social skills
Head size significantly below normal
Hyperactivity
Jerking movements of the arms or legs
Mental retardation
Seizures
Skin rashes
Tremors
Unusual positioning of hands

If the condition is untreated or foods containing phenylalanine are not avoided, a "mousy" or "musty" odor may be detected on the breath and skin and in urine. The unusual odor is due to a build up of phenylalanine substances in the body.

Signs and tests

PKU can be easily detected with a simple blood test. All states in the US require a PKU screening test for all newborns as part of the newborn screening panel. The test is generally done by taking a few drops of blood from the baby before the baby leaves the hospital.

If the initial screening test is positive, further blood and urine tests are required to confirm the diagnosis.

Treatment

PKU is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing. The diet must be strictly followed. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child. Those who continue the diet into adulthood have better physical and mental health. “Diet for life” has become the standard recommended by most experts. This is especially important before conception and throughout pregnancy.

Phenylalanine occurs in significant amounts in milk, eggs, and other common foods. The artificial sweetener NutraSweet (aspartame) also contains phenylalanine. Any products containing aspartame should be avoided.

A special infant formula called Lofenalac is made for infants with PKU. It can be used throughout life as a protein source that is extremely low in phenylalanine and balanced for the remaining essential amino acids.

Taking supplements such as fish oil to replace the long chain fatty acids missing from a standard phenylalanine-free diet may help improve neurologic development, including fine motor coordination. Other specific supplements, such as iron or carnitine, may be needed.

Expectations (prognosis)

The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth. If treatment is delayed or the condition remains untreated, brain damage will occur. School functioning may be mildly impaired.

If proteins containing phenylalanine are not avoided, PKU can lead to mental retardation by the end of the first year of life.

Complications

Severe mental retardation occurs if the disorder is untreated. ADHD (attention-deficit hyperactivity disorder) appears to be the most common problem seen in those who do not stick to a very low-phenylalanine diet.

Calling your health care provider

Call your health care provider if your infant has not been tested for PKU. This is particularly important if anyone in your family has the disorder.

Prevention

An enzyme assay can determine if parents carry the gene for PKU. Chorionic villus sampling can be done during pregnancy to screen the unborn baby for PKU.

It is very important that women with PKU closely follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy, since build-up of this substance will damage the developing baby even if the child has not inherited the defective gene.

References

American Dietetic Association. Providing nutrition services for infants, children, and adults with developmental disabilities and special health care needs. J Am Diet Assoc. Jan 2004; 104(1): 97-107. [PubMed: 14702592]
Beblo S. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J Pediatr. May 2007; 150(5): 479-84. [PubMed: 17452220]
Filiano JJ. Neurometabolic diseases in the newborn. Clin Perinatol. Jun 2006; 33(2): 411-79. [PubMed: 16765732]
Gassio R. School performance in early and continuously treated phenylketonuria. Pediatr Neurol. Oct 2005; 33(4): 267-71. [PubMed: 16194725]
Welch T. Dietary management of mothers with PKU during pregnancy. J Pediatr. Feb 2004; 144(2); 1A.
Welch TR. Pharmacologic approach to PKU? J Pediatr. Jun 2007; 150(6); A3.
Screening for phenylketonuria (PKU): US Preventive Services Task Force reaffirmation recommendation. Ann Fam Med. 2008;6:166. [PubMed: 18332411]

: Review Date: 6/17/2011.

Fish Oil Seems to Help Cancer Patients Preserve Muscle

2011-03-01T10:31:00.000-05:00

MONDAY, Feb. 28 (HealthDay News) -- Cancer patients undergoing chemotherapy may be able to avoid the accompanying muscle loss and malnutrition by taking fish oil supplements that contain omega-3 fatty acids, new research suggests.

The finding is based on a small study involving just 40 lung cancer patients. Nevertheless, it raises hope that a simple, noninvasive intervention might go a long way towards countering the fatigue, poorer prognosis and impaired quality of life that can result from chemo-induced muscle mass loss.

"Fish oil may prevent loss of weight and muscle by interfering with some of the pathways that are altered in advanced cancer," study author Dr. Vera Mazurak, of the University of Alberta in Edmonton, Canada, said in a news release. "This holds great promise, because currently there is no effective treatment for cancer-related malnutrition."

Mazurak and her colleagues report their observations in the Feb. 28 online edition of Cancer.

http://news.yahoo.com/s/hsn/20110301/hl_hsn/fishoilseemstohelpcancerpatientspreservemuscle

Child heart murmur or a congenital heart defect?

2011-03-01T07:30:00.001-05:00

Does your child suffer from a heart murmur or a congenital heart defect? If you have questions, talk to pediatric specialists from the #1 children's hospital in America in our expert forum. Or talk to other parents in the MedHelp pediatric heart community.

high blood pressure

2011-03-01T07:27:00.001-05:00

The foods you eat and feed to your loved ones have the power to ease or exacerbate high blood pressure, a leading cause of heart disease. If you have or are at risk for hypertension, here are 6 foods to nix from your diet plus 3 to add to your shopping list.

http://www.medhelp.org/heart-disease/slideshows/Worst-Foods-for-High-Blood-Pressure/123

Orthopedic Sports Medicine Help - Forums and Discussions - MedHelp

2008-12-16T07:59:00.000-05:00

New forum on Medhelp:
Orthopedic Sports Medicine Help - Forums and Discussions - MedHelp. This forum is being moderated by Michael L. Gross, MD the CEO of Active Orthopedics & Sports Medicine.

Childhood Social Interventions Pay Off in Young Adulthood

2008-12-03T10:16:00.000-05:00

Childhood Social Interventions Pay Off in Young Adulthood
The interventions may result in improved mental and sexual health and higher educational levels in later life. (Arch Pediatr Adolesc Med. December 2008;162:1133-1141.)
Medscape Medical News

Ambulatory BP Monitoring Should Be Used in Resistant Hypertension

2008-12-02T16:23:00.001-05:00

CME Ambulatory BP Monitoring Should Be Used in Resistant Hypertension
Continuously measuring blood pressure may predict heart disease and related deaths in patients with resistant hypertension, but office blood pressure readings do not appear to predict these risks. (Arch Intern Med. November 24, 2008;168:2340-2346.)
Medscape Medical News

Personal Health Records (PHR)

2008-10-31T07:07:00.006-04:00

MedHelp.org has announced its roll out of Personal Health Records.

Have you ever filled out pages and pages of forms at the doctor's office that asked for very specific information regarding dates, diagnoses, medications, dosages and various other questions about your medical history?

MedHelp's Personal Health Records (PHR) product is a free online service that puts you in charge of your health by storing and managing your medical records and health information online in one safe, secure place. You can easily provide your doctors and healthcare providers with accurate, comprehensive information when needed.

In addition to tracking your personal health, the company has rolled out a series of what they call trackers, which enable the user to track personal items such as weight, ovulation, exercise, cholesterol, heart rhythm, pain, sleep, and set personal goals. This feature rich site was founded in 1994 and is one of the oldest and most respected sites on the Net.

Turning your clock back Sunday may help your heart

2008-10-30T11:18:00.001-04:00

NEW YORK – Turning your clock back on Sunday may be good for your heart. Swedish researchers looked at 20 years of records and discovered that the number of heart attacks dipped on the Monday after clocks were set back an hour, possibly because people got an extra hour of sleep.

Drug companies: No cold medicines for kids under 4

2008-10-08T14:26:00.000-04:00

WASHINGTON - Don't give over-the-counter cold remedies to kids under 4, drug companies said Tuesday. What sniffling little ones need, doctors said, are plenty of fluids and lots of tender, loving care.

"The best thing a parent can do is comfort their children," said Dr. Laura Herrera, a Baltimore family practitioner and mother of two. "Keeping them as comfortable as possible is certainly better than giving cough and cold medicines."

Full text of article here

Obesity may diminish a man's fertility

2008-09-24T19:38:00.004-04:00

NEW YORK (Reuters Health) - Being obese may dim a man's chances of becoming a father, even if he is otherwise healthy, a new study suggests.

Other news:

Heart Disease Question?

2008-09-22T13:08:00.005-04:00

Medhelp's Heart Disease forum now celebrates its 10th anniversary. Started in 1998, this forum gives patients access to doctors from the Cleveland Clinic, which has been consistantly rated the number 1 heart center in the U.S.

On a related heart subject, questions regarding Heart Rhythm can be posted into a separate message board. Questions in this forum are answered by Dr. Michael J. McWilliams, of the Wilmington Health Associates.

FTC warns consumers about bogus cancer cures

2008-09-19T10:06:00.001-04:00

WASHINGTON (AP) - The Federal Trade Commission charged five companies with making false and misleading claims for cancer cures and said Thursday that it has reached settlements with six others. "As long as products have been sold there has been somebody out there selling snake oil to consumers," said Lydia Parnes, director of the FTC's bureau of consumer protection.

She said the agency, along with the Food and Drug Administration and Canadian authorities, is launching a consumer education campaign warning about bogus claims for cures."There is no credible scientific evidence that any of the products marketed by these companies can prevent, cure, or treat cancer of any kind," said Parnes.The products the companies marketed include essiac teas and other herbal mixtures, laetrile, black salve — a corrosive ointment — and mushroom extracts.

Colon X-ray seen as effective at spotting cancer

2008-09-18T06:22:00.001-04:00

(AP) ATLANTA - A long-awaited federal study of an X-ray alternative to the dreaded colonoscopy confirms its effectiveness at spotting most cancers, although it was far from perfect.

Other News:

The results of a study suggest that online-mediated syphilis testing is helpful in detecting syphilis in gay men.

Men with sleep apnea may suffer from a treatable form of erectile dysfunction caused by regular deprivation of oxygen experienced during these episodes of obstructed breathing, a new report says... full text