Genetic, Chromosomal & Metabolic Conditions

About Neurofibromatosis

Neurofibromatosis (NF) is a neurocutaneous syndrome that can affect many parts of the body, including the brain, spinal cord, nerves, skin, and other body systems. NF can cause growth of non-cancerous (benign) tumors involving the nerves and brain.

NF can range from mild to severe. Some children live almost unaffected by their NF, while others can be severely disabled.

Types of NF

Of the three types of neurofibromatosis — NF1, NF2, and schwannomatosis — NF1 is most common. NF1, also known as von Recklinghausen disease, occurs in 1 of every 2,500 births and affects about 100,000 Americans.

NF2 is much rarer, found in about 1 in 25,000 births. A person with NF2 almost always has bilateral vestibular schwannomas, which are non-cancerous tumors affecting the nerves that carry hearing and balance information to the brain.

Schwannomatosis is the third and rarest type of NF. People with schwannomatosis have many noncancerous tumors (schwannomas) affecting the nerves throughout the body. In contrast to NF2, they don’t develop tumors on the vestibular nerves of the ear and lose their hearing. This disorder isn’t usually identified until people reach their mid-20s and begin to get symptoms of chronic pain.

Even in a family in which more than one person has NF, the disease may cause slightly different problems in each person who has it.

Causes of NF

Both neurofibromatosis 1 and 2 are kind of inherited disorder. People with NF have 1 in 2 chance of passing it on to each of their babies. About half of cases of NF are inherited in this way. In the other half of cases, the mutation that causes neurofibromatosis happens spontaneously. In these families where nobody has had NF before, the genetic material gets changed when the sperm meets the egg.

Blood testing helps confirm whether a person has NF, and helps check for mutations.

Signs and Symptoms

In younger kids or in those with mild cases, NF1 can be found early when café-au-lait spots (birthmarks) appear on the skin.

Many people without NF1 have one café-au-lait spot. But if a young child has more than five of these birthmarks, at least ½ inch in diameter (roughly the size of a dime), a doctor will look for other clues that may indicate NF1. Other signs of NF1 include freckling in the armpits and groin areas, as well as neurofibromas — tumors on, under, or hanging off the skin — and Lisch nodules, tiny, noncancerous bumps on the iris (the colored part of the eye). Although Lisch nodules help identify a person with NF1, they don’t cause any vision problems.

Neurofibromas can be on various parts of the body, often right before puberty starts.

People with NF1 may also have bone problems, such as the thinning or overgrowth of the bones in the arms or lower leg, or scoliosis, an abnormal curving of the spine.

NF2 isn’t usually diagnosed until a child is older. Hearing loss in the late teens and early 20s, is often the first symptom of the disorder, and is caused by tumors growing on the vestibular nerves. The vestibular nerves carry electrical impulses from the ear to the brain, allowing us to hear, and these tumors can occur on one or both sides.

Other symptoms of NF2 include continuous ringing in the ears, headache, facial pain, or weakness, and feeling unsteady or off-balance.

Other tumors may involved the lining of the brain (meningiomas) and spinal cord (ependymomas). Young children also may have problems with the retina in the back of the eye.

Diagnosis

Neurofibromatosis is usually diagnosed based a child having at least two of these seven signs:

• café-au-lait spots of a certain number, size, and location
• the appearance of two or more neurofibromas (often resembling pea-sized bumps on the skin)
• two or more Lisch nodules
• an optic glioma (tumor along the main nerve from the eye responsible for sight)
• certain skeletal defects
• a close family member with NF1
• freckling under the arms or in the groin

This list helps diagnose patients with NF1 in all but the youngest children, and by age 8, most children with NF1 will meet the criteria. By the age of 20, all patients meet the criteria.  If the diagnosis isn’t certain based on these factors, genetic testing is available, but the result can’t help a person tell which signs of NF they will develop.

If a doctor suspects your child has NF1, he or she may refer you to NF1 specialists.

Other tests help identify medical problems associated with the NF. Tests like magnetic resonance imaging (MRI) help screen for changes in the brain called “bright spots,” brain enlargement, and tumors. X-rays may help identify skeletal problems.

To diagnose NF2, doctors will check for any evidence of hearing loss or balance problems. They’ll order audiometry (hearing tests) as well as brain and spine imaging studies to look for tumors in the nerves of the ears, spinal cord, or brain. They’ll also ask about family members who may have NF2. Individuals will also be sent to an eye doctor to check for cataracts and retinal problems.

Genetic testing is now available for NF2. For women with NF2 who are pregnant, amniocentesis or chorionic villus sampling can also sometimes determine if an unborn child has the condition.

Treatment

Treatment for NF requires multi-disciplinary team management.

Research over the past decade has resulted in the discovery of new treatments for people with NF. These new therapies are currently being offered as part of ongoing clinical trials to provide better options for affected individuals.

Caring for Your Child

The first noticeable sign of neurofibromatosis usually is the presence of multiple café-au-lait spots. If your child has several of these birthmarks, ask your doctor to refer you to a clinical program with expertise in NF.

About Newborn Screening

Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth.

With a simple blood test, doctors often can tell whether newborns have certain conditions that eventually could cause problems. Although these conditions are rare and most babies are given a clean bill of health, early diagnosis and proper treatment sometimes can make the difference between lifelong impairment and healthy development.

Which Tests Are Offered?

Newborn screening varies by state and is subject to change, especially given advancements in technology. However, the disorders listed here are those usually included in newborn screening programs:

• phenylketonuria (PKU)
• congenital hypothyroidism
• galactosemia
• sickle cell disease
• biotinidase deficiency
• congenital adrenal hyperplasia (CAH)
• maple syrup urine disease (MSUD)
• tyrosinemia
• cystic fibrosis (CF)
• MCAD deficiency
• severe combined immunodeficiency (SCID)
• toxoplasmosis

All newborns will also have a hearing screening.

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a metabolic disorder. Metabolism is the process in the body that converts the fuel from food into energy needed to do everything from moving to thinking to growing. A metabolic disorder is any disease caused by an abnormal chemical reaction in the body’s cells.

Babies with PKU are missing an enzyme that’s needed to process phenylalanine. Phenylalanine is an amino acid necessary for normal growth in kids and for normal protein use. Amino acids are the “building blocks” for the proteins that make up our muscles and other important parts of our bodies.

If too much phenylalanine builds up, it damages brain tissue and can cause developmental delay.

When PKU is detected early, feeding an infant a special formula low in phenylalanine can prevent intellectual disability. A low-phenylalanine diet is needed throughout childhood and adolescence and sometimes into adult life. This diet cuts out all high-protein foods, so people with PKU often need to take a special artificial formula as a nutritional substitute.

Congenital Hypothyroidism

The thyroid, a gland at the front of the neck, releases special chemicals called hormones that control metabolism and growth. These hormones control how fast the body uses up energy and are also key factors in helping kids grow.

Babies with congenital hypothryoidism don’t have enough thyroid hormone. The condition can cause slow growth and brain development.

If congenital hypothryoidism is detected early, a baby can be treated with oral doses of thyroid hormone.

Galactosemia

Babies with galactosemia lack the enzyme that converts galactose (one of two sugars found in lactose) into glucose, the major source of energy for the body’s cells.

For a baby with galactosemia, milk (including breast milk) and other dairy products must be removed from the diet. Otherwise, galactose can build up in the body and damage cells and organs, leading to blindness, severe intellectual disability, growth deficiency, and even death.

Many less severe forms of galactosemia may not require any treatment.

Sickle Cell Disease

Sickle cell disease is a blood disorder that’s inherited (meaning it’s passed down from parents to their children). It affects a protein in red blood cells called hemoglobin that helps carry oxygen throughout the body.

Red blood cells with normal hemoglobin move easily through the bloodstream because of their rounded shape and flexibility. But sickle cell disease makes red blood cells form into a curved, sickle shape. These cells also become sticky, stiff, and more fragile. This makes it hard for them to move through the bloodstream.

Sickle cell disease can cause pain episodes, damage to vital organs like the lungs and kidneys, and even death. Young children with sickle cell disease are especially prone to certain dangerous bacterial infections, like pneumonia (inflammation of the lungs) and meningitis (inflammation of the brain and spinal cord).

Newborn screening for sickle cell disease can alert doctors to begin antibiotic treatment before infections happen. Newborn screening also helps doctors monitor symptoms more closely and can detect other disorders affecting hemoglobin.

Biotinidase Deficiency

Babies with biotinidase deficiency don’t have enough biotinidase, an enzyme that recycles biotin (a B vitamin) in the body. Biotinidase deficiency may cause seizures, poor muscle control, problems with the immune system, hearing loss, intellectual disability, coma, and even death.

If biotinidase deficiency is detected quickly, problems can be prevented by giving the baby extra biotin.

Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a group of disorders involving hormones produced by the adrenal gland. CAH can affect both boys and girls. It causes the adrenal glands to make excess androgens (male steroid hormones) and, in some cases, not enough of the hormones that regulate the body’s salt balance.

Congenital adrenal hyperplasia can affect the development of the genitals and may cause death due to loss of salt from the kidneys. Lifelong treatment through supplementation of the missing hormones manages the condition.

Maple Syrup Urine Disease (MSUD)

Babies with maple syrup urine disease (MSUD) are missing an enzyme needed to process three amino acids needed for the body’s normal growth. When these amino acids aren’t processed correctly, they can build up in the body. If not detected and treated early, MSUD can cause intellectual disability, physical disability, and even death.

MSUD makes urine (pee) smell like maple syrup or sweet, burnt sugar. Babies with MSUD usually have little appetite and are very irritable.

A carefully controlled diet that cuts out certain high-protein foods containing the three amino acids can prevent MSUD. Babies with MSUD are often given a formula that supplies the necessary nutrients.

Tyrosinemia

Babies with tyrosinemia have trouble processing the amino acid tyrosine. If tyrosine builds up in the body, it can cause mild intellectual disability, language skill difficulties, liver problems, and even death from liver failure.

Treatment for tyrosinemia requires a special diet and sometimes a liver transplant. Early diagnosis and treatment can offset long-term problems.

Cystic Fibrosis (CF)

Cystic fibrosis (CF) is a genetic disorder that mainly affects the lungs and digestive system and makes kids who have it more vulnerable to lung infections. There is no known cure for cystic fibrosis — treatment involves trying to prevent serious lung infections (sometimes with antibiotics) and providing adequate nutrition.

Early detection may help doctors reduce the problems associated with cystic fibrosis, but the real impact of newborn screening has yet to be determined.

MCAD Deficiency

MCAD (medium chain acyl CoA dehydrogenase) is an enzyme needed to break down certain fatty acids in the body. Fatty acids are the building blocks of the fat in our bodies and in the food we eat. During digestion, the body breaks down fats into fatty acids, which can then be absorbed into the blood.

With MCAD deficiency, the body can’t process these fatty acids. Kids who have MCAD deficiency can have repeated episodes of low blood sugar (hypoglycemia), which can cause seizures and interfere with normal growth and development.

Treatment for MCAD deficiency involves making sure kids don’t fast (skip meals) and that they get extra nutrition (usually by intravenous [IV] nutrients) when they’re ill.

Severe Combined Immunodeficiency (SCID)

Severe combined immunodeficiency (SCID) is a serious immune system disorder that happens because of a lack of both B- and T- lymphocytes in the body. Made in the bone marrow and the thymus gland, B- and T- lymphocytes are specialized white blood cells that fight infection. When the immune system doesn’t work correctly, it can be difficult or impossible for it to battle viruses, bacteria, and fungi that cause infections.

Early diagnosis of SCID can allow treatment to help the immune system work properly.

Toxoplasmosis

Toxoplasmosis is an infection by a tiny parasite (Toxoplasma gondii) that can live inside the cells of humans and animals, especially cats and farm animals.

Toxoplasmosis can cause serious problems in a baby, including seizures and severe eye problems (including blindness) and brain damage or intellectual disability.

Only a few states in the U.S. screen for toxoplasmosis.

Hearing Screening

Most states require that newborns have their hearing screened before they’re discharged from the hospital. If your baby isn’t examined then, be sure that your little one gets screened within the first 3 weeks of life.

Kids develop critical speaking and language skills in their first few years. A hearing loss that’s caught early can be treated to help prevent problems with that development.

Should I Request Other Tests?

If you answer “yes” to any of these questions, talk to your doctor and perhaps a genetic counselor about additional tests:

• Do you have a family history of an inherited disorder?
• Have you previously given birth to a child who’s affected by a disorder?
• Did an infant in your family die because of a suspected metabolic disorder?
• Do you have another reason to believe that your child may be at risk for a certain condition?

How Screening Is Done

In the first 2 or 3 days of life, your baby’s heel will be pricked to get a small blood sample for testing. Most states have a state or regional laboratory do the analyses, although some use a private lab.

It’s generally recommended that the blood sample be taken after the first 24 hours of life. However, because mothers and newborns are often discharged within a day, some babies may be tested within the first 24 hours. If this happens, experts recommend that a repeat sample be taken no more than 1 to 2 weeks later. Some states routinely do two tests on all infants.

Getting the Results

Different labs have different procedures for notifying families and doctors of the results. Some may send the results to the hospital where your child was born and not directly to your child’s doctor, which may mean a delay in getting the results to you. Ask your doctor how you’ll get the results and when you should expect them.

If a test result comes back abnormal, try not to panic. This does not necessarily mean that your child has a disorder. A screening test is not the same as diagnostic test. The initial screening provides only early information that must be followed up with more specific testing.

If testing confirms that your child does have a disorder, your doctor may refer you to a specialist for further evaluation and treatment. Keep in mind that dietary restrictions and supplements, along with proper medical supervision, often can prevent most of the serious physical and mental problems that were associated with metabolic disorders in the past.

You also may wonder whether the disorder can be passed on to any future children. Talk with your doctor and perhaps a genetic counselor. Also, if you have other children who weren’t screened for the disorder, consider having testing done.

Know Your Options

There are no national standards for newborn screening in the United States. Screening requirements vary from state to state and are chosen by each state’s public health department. However, almost all states now screen for more than 30 disorders. Many states have mandatory newborn screening programs, but parents can refuse the testing for their infant if they choose.

Learn about what tests are routinely done in your state and in the hospital where you’ll deliver (some hospitals go beyond what’s required by state law). If your state doesn’t offer a particular test, ask your doctor about supplemental screening. Talk to your doctor or contact your state’s department of health for more information.

If you’re concerned about whether your infant was screened for certain conditions, ask your child’s doctor for information about which tests were done and whether further tests are recommended.

If you and your partner are newly pregnant, you may be amazed at the number and variety of prenatal tests available to you. Blood tests, urine tests, monthly medical exams, screening tests, and family history tracking — each helps to assess the health of you and your baby, and to predict any potential health risks.

You may also have the option of genetic testing. These tests identify the likelihood of passing certain genetic diseases or disorders (those caused by a defect in the genes — the tiny, DNA-containing units of heredity that determine the characteristics and functioning of the entire body) to your children.

Some of the more familiar genetic disorders are:

• Down syndrome
• cystic fibrosis
• sickle cell disease
• Tay-Sachs disease (a fatal disease affecting the central nervous system)

If your history suggests that genetic testing would be helpful, you may be referred to a genetic counselor. Or, you might decide to seek out genetic counseling yourself.

But what do genetic counselors do, and how can they help your family?

What Is Genetic Counseling?

Genetic counseling is the process of:

• evaluating family history and medical records
• ordering genetic tests
• evaluating the results of this investigation
• helping parents understand and reach decisions about what to do next

Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner, or your baby carry genes for certain inherited disorders.

Genes are made up of DNA molecules, which are the building blocks of heredity. They’re grouped together in specific patterns within a person’s chromosomes, forming the unique “blueprint” for every physical and biological characteristic of that person.

Humans have 46 chromosomes, arranged in pairs in every living cell of our bodies. When the egg and sperm join at conception, half of each chromosomal pair is inherited from each parent. This newly formed combination of chromosomes then copies itself again and again during fetal growth and development, passing identical genetic information to each new cell in the growing fetus.

Current science suggests that every human has about 25,000 genes per cell. An error in just one gene (and in some instances, even the alteration of a single piece of DNA) can sometimes be the cause for a serious medical condition.

Some diseases, such as Huntington’s disease (a degenerative nerve disease) and Marfan syndrome (a connective tissue disorder), can be inherited from just one parent. But most disorders, including cystic fibrosis, sickle cell anemia, and Tay-Sachs disease, cannot occur unless both the mother and father pass along the gene.

Other genetic conditions, such as Down syndrome, are usually not inherited. In general, they result from an error (mutation) in the cell division process during conception or fetal development. Still others, such as achondroplasia (the most common form of dwarfism), may either be inherited or the result of a genetic mutation.

Genetic tests don’t yield easy-to-understand results. They can reveal the presence, absence, or malformation of genes or chromosomes. Deciphering what these complex tests mean is where a genetic counselor comes in.

About Genetic Counselors

Genetic counselors are professionals who have completed a master’s program in medical genetics and counseling skills. They then pass a certification exam administered by the American Board of Genetic Counseling.

Genetic counselors can help identify and interpret the risks of an inherited disorder, explain inheritance patterns, suggest testing, and lay out possible scenarios. (They refer you to a doctor or a laboratory for the actual tests.) They will explain the meaning of the medical science involved, provide support, and address any emotional issues raised by the results of the genetic testing.

Who Should See One?

Most couples planning a pregnancy or who are expecting don’t need genetic counseling. About 3% of babies are born with birth defects each year, according to the Centers for Disease Control and Prevention (CDC) — and of the malformations that do occur, the most common are also among the most treatable. Cleft palate and clubfoot, two of the more common birth defects, can be surgically repaired, as can many heart malformations.

The best time to seek genetic counseling is before becoming pregnant, when a counselor can help assess your risk factors. But even after you become pregnant, a meeting with a genetic counselor can still be helpful. A genetic counselor can help determine what testing is appropriate for your pregnancy.

Experts recommend that all pregnant women, regardless of age or circumstance, be offered genetic counseling and testing to screen for Down syndrome.

It’s especially important to consider genetic counseling if any of the following risk factors apply to you:

• a standard prenatal screening test (such as the alpha fetoprotein test) yields an abnormal result
• an amniocentesis yields an unexpected result (such as a chromosomal defect in the unborn baby)
• either parent or a close relative has an inherited disease or birth defect
• either parent already has children with birth defects, intellectual disabilities, or genetic disorders
• the mother-to-be has had two or more miscarriages or babies that died in infancy
• the mother-to-be will be 35 or older when the baby is born. Chances of having a child with Down syndrome increase with the mother’s age: a woman has about a 1 in 350 chance of conceiving a child with Down syndrome at age 35, a 1 in 110 chance at age 40, and a 1 in 30 chance at age 45.
• you are concerned about genetic defects that occur frequently in certain ethnic or racial groups. For example, couples of African descent are most at risk for having a child with sickle cell anemia; couples of central or eastern European Jewish (Ashekenazi), Cajun, or Irish descent may be carriers of Tay-Sachs disease; and couples of Italian, Greek, Middle Eastern, southern Asian, or African descent may carry the gene for thalassemia, a red blood cell disorder.
• either parent is concerned about the effects of exposures they have had to radiation, medications, illegal drugs, infections, or chemicals

Meeting With a Genetic Counselor

Before you meet with a genetic counselor in person, you may be asked to gather information about your family history. The counselor will want to know of any relatives with genetic disorders, multiple miscarriages, and early or unexplained deaths. The counselor will also want to look over your medical records, including any ultrasounds, prenatal test results, past pregnancies, and medications you may have taken before or during pregnancy.

When you meet with the counselor, you’ll go over any gaps or potential problem areas in your family or medical history. The counselor can help you understand the inheritance patterns of any potential disorders and help assess your chances of having a child with those disorders.

The counselor will distinguish between risks that every pregnancy faces and risks that you personally face. Even if you discover you have a particular problem gene, science can’t always predict the severity of the related disease. For instance, a child with cystic fibrosis can have debilitating lung problems or, less commonly, milder respiratory symptoms.

If more tests are necessary, the counselor will help you set up those appointments and track the paperwork. When the results come in, the counselor will call you with the news and may ask you to come in for another discussion.

After Counseling

Genetic counselors can help you understand your options and adjust to any uncertainties you face, but you and your family will have to decide what to do next.

If you’ve learned before conception that you and/or your partner are at high risk for having a child with a severe or fatal defect, your options might include:

• pre-implantation diagnosis — when eggs that have been fertilized in vitro (in a laboratory, outside of the womb) are tested for defects at the 8-cell (blastocyst) stage, and only nonaffected blastocysts are implanted in the uterus to establish a pregnancy
• using donor sperm or donor eggs
• adoption
• taking the risk and having a child
• establishing pregnancy and have specific prenatal testing

If you’ve received a diagnosis of a severe or fatal defect after conception, your options might include:

• preparing yourself for the challenges you’ll face when you have your baby
• fetal surgery to repair the defect before birth (surgery can only be used to treat some defects, such as spina bifida or congenital diaphragmatic hernia, a hole in the diaphragm that can cause severely underdeveloped lungs. Most defects cannot be surgically repaired.)
• ending the pregnancy

For some families, knowing that they’ll have an infant with a severe or fatal genetic condition seems too much to bear. Other families are able to adapt to the news — and to the birth — remarkably well.

Genetic counselors can share the experiences they’ve had with other families in your situation. But they will not suggest a particular course of action. A genetic counselor understands that what is right for one family may not be right for another.

Genetic counselors can, however, refer you to specialists for further help. For instance, many babies with Down syndrome are born with heart defects. Your counselor might encourage you to meet with a cardiologist to discuss heart surgery, and a neonatologist to discuss the care of a post-operative newborn. Genetic counselors can also refer you to social workers, support groups, or mental health professionals to help you adjust to and prepare for your complex new reality.

Finding a Genetic Counselor

Working with a genetic counselor can be reassuring and informative, especially if you or your partner have known risk factors. Talk to your doctor if you feel you would benefit from genetic counseling. Many doctors have a list of local genetic counselors they work with. You also can contact the National Society of Genetic Counselors for more information.

The thyroid is a small gland located below the skin and muscles at the front of the neck, just at the spot where a bow tie would rest. It’s brownish red, with left and right halves (called lobes) that look like a butterfly’s wings. It’s light like a butterfly, too, and usually weighs less than an ounce.

As small as it is, though, the thyroid has an enormously important job to do, especially for teens. It makes the hormones that help control metabolism and growth. To do its job, the thyroid needs a chemical element called iodine. The body absorbs from the foods we eat and the water we drink. The entire body contains about 50 milligrams of iodine. About 1/5 to 1/3 of that supply (10 to 15 milligrams) is stored in the thyroid. The thyroid combines the iodine with tyrosine (an essential amino acid) to make important hormones.

Thyroid hormones are released from the gland and travel through the bloodstream to the body’s cells. They help control the growth and the structure of bones, sexual development (puberty), and many other body functions. By helping cells convert oxygen and sugar and other body fuels into the energy they need to work properly, these hormones are important in helping a child’s body mature as it should.

Thyroid hormones also directly affect how most organs function. So a thyroid that isn’t operating properly can cause problems in many other parts of the body.

What Is Thyroid Disease?

Thyroid disease is when the thyroid gland doesn’t supply the proper amount of hormones needed by the body. If the thyroid is overactive, it releases too much thyroid hormone into the bloodstream, resulting in hyperthyroidism. (“Hyper” is from the Greek, meaning “over” or “above.”) Hyperthyroidism causes the body to use up energy more quickly than it should, and chemical activity (like metabolism) in the cells speeds up.

An underactive thyroid produces too little thyroid hormone, resulting in hypothyroidism. (“Hypo” means “under” or “below.”) When the amount of hormone released into the bloodstream is below normal, the body uses up energy more slowly, and chemical activity (metabolism) in the cells slows down.

Although they are two different conditions, in both hypothyroidism and hyperthyroidism the thyroid can become larger than normal. An enlarged thyroid gland is a lump that can be felt under the skin at the front of the neck. When it is large enough to see easily, it’s called a goiter.

People who don’t get enough iodine in their diets also can get an enlarged thyroid, but this is rare in the United States because foods here usually supply enough iodine.

Hyperthyroidism

Hyperthyroidism can cause nervousness, irritability, increased perspiration (sweating), intolerance to heat, fatigue, difficulty sleeping, a fast heartbeat, irregular menstrual periods in girls, and muscle weakness.

Graves disease, an autoimmune disease, is the most common cause of hyperthyroidism. It makes the immune system produce abnormal types of antibodies (normally, antibodies help the body fight infection). These abnormal antibodies make the thyroid gland produce more thyroid hormones.

People with this problem might lose weight even though they’re eating more than usual. Their eyes may feel irritated or look like they’re staring. Sometimes the tissues around the eyes become inflamed and swollen, and the eyes appear to bulge out, but this is less common in teens than in adults with hyperthyroidism.

Eventually, the thyroid gland enlarges, which can result in a goiter. For reasons that doctors don’t yet understand, autoimmune thyroid diseases like Graves disease are much more common in women and are most likely to affect teens and young and middle-aged adults.

Doctors usually diagnose Graves disease based on a person’s symptoms, a physical examination, and blood tests that show high levels of thyroid hormone in the blood.

Once the diagnosis is made, a teen with Graves disease will usually start taking an anti-thyroid medicine, which blocks the thyroid’s production of thyroid hormones. The medicine usually brings the hormone levels down to the normal range in 1 to 2 months.

However, in most cases, the disease doesn’t go away. Some people continue taking medicine for months or years to keep Graves disease under control. But because it can be hard to take medicine 1 to 3 times a day for a long period, many doctors recommend a permanent treatment.

Radioactive iodine (RAI) is the most commonly recommended permanent treatment for teens with Graves disease. Although usually given at a hospital, it doesn’t require a hospital stay. RAI is considered safe for teens when given in the standard amount. It is taken in capsules or mixed with a glass of water. The thyroid gland quickly absorbs the RAI from the bloodstream and, within a few months, the gland shrinks and symptoms gradually disappear. RAI has been used to treat Graves disease successfully for more than 50 years.

The other permanent treatment for Graves disease is surgery to remove most of the thyroid gland (called a thyroidectomy). The operation is done in a hospital under general anesthesia, so the patient is asleep and feels nothing during the surgery. A small incision (cut) in the lower central part of the neck usually leaves a thin scar.

After surgery, there’s often swelling in the area of the incision. People sometimes have a sore throat and some trouble swallowing following surgery, although they should be able to eat and drink normally. These symptoms usually disappear within a few days.

After treatment for hyperthyroidism, hormone production often slows down to hypothyroid (underactive) levels, so the person needs to take a thyroid hormone replacement tablet each day. This treatment is a lot easier to manage than taking pills to control the hyperthyroidism — fewer blood tests, doctor visits, and medication adjustments are necessary.

As the body adjusts to the hormone replacement tablets, a doctor may increase or reduce the dosage until the levels of thyroid hormone in a person’s blood are normal. Once the doctor finds the proper dosage, people usually feel well and free of symptoms. However, the doctor will continue to check hormone levels to make sure the dosage is right, especially for growing teens whose levels might change over just a few months.

Hypothyroidism

A person with mild hypothyroidism may feel just fine — in fact, the condition might cause no symptoms at all. However, symptoms can become more obvious if hypothyroidism progresses.

People with underactive thyroids might feel depressed and sluggish. They might gain weight, even though they’re not eating more or getting less exercise than usual. Teens with hypothyroidism also might have slow growth in height, slow sexual development, irregular menstrual periods in girls, muscle weakness, dry skin, hair loss, poor memory, and difficulty concentrating.

Hashimoto’s thyroiditis (hah-she-MOE-toes thy-roy-DYE-tiss) is also an autoimmune disease and is the most common cause of hypothyroidism in teens. In this condition, the body’s immune system attacks the cells in the thyroid gland, preventing it from producing enough thyroid hormone. The thyroid responds by working harder to make enough hormones. This can make it become enlarged and may result in a goiter.

Hypothyroidism is usually easily diagnosed with a physical examination and blood tests, and treatment with thyroid hormone replacement pills can restore normal levels of thyroid hormone in the blood. This treatment is pretty simple, but it does require doctor visits once or twice a year for an examination, blood tests, and medication adjustments as needed.

Goiters and Thyroid Nodules

It can take months or years for a goiter to develop. Visible as a swelling at the front of the neck, a goiter often is the first symptom of an autoimmune thyroid condition. People with this problem might have the sensation that food is stuck in the throat, especially when they lie down or sleep on their backs.

Treatment of the thyroid disease causing the goiter usually will decrease or control the enlargement. If the thyroid continues to get larger despite treatment and becomes large enough to cause discomfort or a lump in the neck, surgery may be required. However, this is not often the case.

A thyroid nodule is a lump or enlarged area in the thyroid gland. Sometimes a nodule can appear in a healthy gland. It may feel like a lump in the throat, or there may be tenderness or pain in the front of the neck. If the nodule is large enough, it may be visible at the front of the neck.

Most thyroid nodules are harmless. A nodule may simply be an overgrowth of normal thyroid tissue, a swelling caused by inflammation (such as in autoimmune thyroid diseases), or a collection of fluid called a cyst.

The doctor usually discovers nodules by touch during a physical examination. If the doctor finds a nodule, blood tests might be done to find out how the thyroid gland is working. A doctor also may take an ultrasound image of the gland to detect whether the nodule is a cyst or a solid growth or tumor.

Another test, called a thyroid scan, can tell the doctor what type of nodule someone has. For this test, a person swallows a pill containing a small amount of radioactive iodine or another radioactive substance. The thyroid absorbs the radioactive substance. Then a special camera measures where the radioactive substance is taken up by the thyroid gland, giving the doctor a better picture of the location, size, and type of thyroid nodule.

A fine-needle biopsy also might be done to help determine whether a nodule is cancerous. During the biopsy, the doctor inserts a thin needle through the skin into the thyroid nodule (the skin is numbed with medicine first). Through the needle, the doctor takes a sample of tissue or some fluid from a cyst. The tissue or fluid is then sent to a lab to be examined. In some cases, a person might need to have the nodule surgically removed for more detailed examination in the lab.

Fortunately, cancer is rare in children and teens, and most thyroid cancers can be cured or controlled with treatment.

Thyroid Disease, Growth, and Puberty

Once puberty starts, the body goes through some very noticeable changes. Because thyroid hormones play an important role in this process, thyroid disease may slow down or interfere with that physical development. But it’s important to know that not everyone grows or develops at the same age or at the same rate. If one child seems to grow 4 inches overnight and another hasn’t had a growth spurt yet, it doesn’t mean there’s something wrong with the thyroid.

A thyroid problem also may cause a girl to have changes in her periods. Girls with thyroid problems may have a decrease or increase in menstrual flow, or there may be a shorter or longer time between periods than usual. However, because girls who are just starting to menstruate often have irregular periods for the first year or so, changes in periods are usually nothing to worry about and don’t mean a girl has thyroid disease.

If you’re concerned that your child might have a thyroid problem, call your doctor. Chances are, the problem is something simpler. And if it is thyroid disease, diagnosing and treating it properly — including bringing the blood levels of thyroid hormones back to normal — will usually prevent or correct any problems.

Turner syndrome, a medical disorder that affects about 1 in every 2,500 girls, is a genetic condition in which a female does not have the usual pair of two X chromosomes. Girls who have this condition usually are shorter than average and infertile due to early loss of ovarian function.

About Turner Syndrome

Turner syndrome (TS) was first described in 1938 by Dr. Henry Turner, an endocrinologist, who noted a set of common physical features in some of his female patients. It is the result of a chromosomal abnormality in which a female infant is born with only one X chromosome (instead of two) or is missing part of one X chromosome.

In most cases, untreated females with this disorder are short in stature (average final adult height is 4 feet 7 inches) and may have a variety of related physical features and medical problems.

Because females with TS don’t have proper ovarian development, they usually don’t develop all of the secondary sexual characteristics (the physical changes or features that usually develop at puberty) during adolescence and are infertile (the inability to become pregnant) as adults. However, advances in medical technology, including hormonal therapy and in vitro fertilization, can help women with this condition.

Other health problems that may happen with TS include kidney and heart abnormalities, high blood pressure, obesity, diabetes mellitus, vision problems, thyroid problems, and abnormal bone development.

Girls with TS usually have normal intelligence, but some may experience learning difficulties, particularly in mathematics. Many also have a problem with tasks requiring spatial skills, such as map reading or visual organization. Hearing problems are also more common in girls with Turner syndrome.

Although they aren’t at increased risk for psychological problems, some girls do have problems with body image or self-esteem and some also might be hyperactive.

Despite these physical differences and other problems, with appropriate medical care, early intervention, and ongoing support, a girl with Turner syndrome can lead a normal, healthy, and productive life.

Diagnosing Turner Syndrome

During a physical examination, a doctor may look for certain physical features of Turner syndrome, which can include:

• short stature (below-average height)
• “webbing” of the skin of the neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
• a low hairline at the back of the head
• low-set ears
• abnormal eye features, including drooping of the eyelids
• abnormal bone development, especially the bones of the hands and elbows
• a lack of breast development at the expected age (usually by age 13)
• an absence of menstruation (amenorrhea)
• a larger than usual number of moles on the skin

Girls with TS can vary widely in their characteristics or symptoms. Some have many features or symptoms; others have only a few.

A special blood test that looks at chromosomes — a karyotype — is used to diagnose Turner syndrome. Several physical characteristics may be noted at birth, which can alert a doctor to the possibility of TS and prompt him or her to order a karyotype. Results that indicate Turner syndrome show 45 chromosomes instead of the normal 46. In some girls with TS, two X chromosomes are present, but one is misshapen or missing a piece.

Treating Turner Syndrome

Because TS is a chromosomal disorder, there’s no cure for the condition. However, a number of treatments can help:

• Growth hormone, either alone or with other hormone treatment, may improve growth and will usually increase final adult height — often into the normal range if treatment is started early enough. The U.S. Food and Drug Administration (FDA) has approved growth hormone for the treatment of Turner syndrome, and most insurance plans now cover this special treatment.
• Estrogen replacement therapy is often started when the girl reaches 12 or 13 years of age to stimulate the development of secondary sexual characteristics (breast development and menstrual periods). This therapy will not reverse infertility, however.
• Cardiac surgery may be necessary to correct specific heart defects.
• Recently developed reproductive technologies can help women with Turner syndrome become pregnant. Fertilized donor eggs can be used to create embryos, which can be inserted into the uterus of a woman with TS. With the help of hormone treatment, the woman can carry a developing fetus to term.

Learning Differences

Most girls with Turner syndrome have normal intelligence. However, some have learning problems, and early consultation with a developmental pediatrician may help them.

Girls with TS can be screened to determine whether cognitive problems may affect their education. Also, a special set of tests (called psychoeducational evaluation) can identify specific problems. A girl’s doctor can help determine whether this testing is appropriate for her.

The Turner Syndrome Society of the United States stresses the importance of assessing a girl’s intellectual, learning, motor skills, and social maturity before enrolling her in kindergarten. If learning problems are identified, early preventive and intervention strategies, if needed, can help.

If Your Daughter Has TS

Although your daughter may have specific medical problems and different physical characteristics due to Turner syndrome, you can do many things to help her develop daily living skills and cope with new or challenging situations. Note: height-related issues may be less important to girls who have improved growth with growth hormone treatment.

• Follow her lead regarding how much information she wants to share with others. Make sure she knows the facts and then allow her to explain TS to her friends and relatives, if she wants.
• Treat her according to her age (not her size) when considering the amount of responsibility given to her and the types of social activities she enjoys.
• Arrange your home so that it’s comfortable for her (provide sturdy footstools in the bathroom and kitchen and easy access to clothing, closets, personal care items, and other necessities). Kitchen chairs or stools that have rungs are especially helpful, as it can be tiring for her if her feet don’t reach the floor.
• Carefully assess her classroom environment. Ask for help from teachers to provide appropriate accommodations in the classroom so that she can reach water fountains, classroom materials, and supplies. The same suggestions apply to the school’s library and gymnasium.
• Help her cope with new situations and encourage her to ask her friends for help, too.
• Compliment her often on her strengths and coping skills. Be patient, positive, and open to discussions about her limitations and fears.
• Allow her to try on different clothing styles until she finds what flatters her or suits her personality. This can help build a more positive body image and self-esteem.
• Encourage participation in activities in which height isn’t an issue, such as skating, diving, horseback riding, babysitting, or volunteer work. Volunteering, in particular, can be a big confidence booster.
• If she is depressed or having problems with her self-esteem, consider counseling and treatment by a mental health professional. Don’t ignore your gut instinct if you think she’s sad or withdrawn.
• Take care of yourself. You won’t be able to provide good care for your daughter if you neglect your own needs. Your community may offer TS support groups or you may want to join the Turner Syndrome Society of the United States. Or consider starting your own support group for parents.

Remember that although Turner syndrome can affect your daughter in many ways, it’s only a small part of her total physical, emotional, and intellectual being.

Don’t hesitate to enlist the help of her doctor, developmental pediatrician, or other medical specialists and mental health professionals. And don’t let your daughter’s diagnosis or medical problems define who she is.

I have heard a little about “epigenetics” and how the genes of even great-grandparents can affect their descendants. But it seems complicated — can you explain the basics?
– Leona

Transgenerational epigenetic inheritance — or epigenetics, for short — doesn’t exactly roll off the tongue. Yet this idea that environmental factors (such as diet, lifestyle choices and behaviors, and stress) can change the health not only of the people who are exposed to them, but also the health of their descendants, is something we’ll be hearing more and more about.

Epigenetic experts believe that the environmental conditions and life experiences of parents, grandparents, and even great-grandparents can, in a way, flip “on/off switches” on the genes in their eggs and sperm, or the genes of developing fetuses in pregnant women, thus changing the genetic code of their offspring and descendants. In this way, new genetic traits can appear in a single generation, and be passed on to kids, grandkids, and beyond.

For instance, evidence suggests that smoking and overeating can affect genes, causing those affecting obesity to become “switched on” and those carrying messages for longevity to become “switched off.” That means that in addition to the self-harm that can come from eating too much or smoking, these lifestyle choices may predispose a person’s offspring (and even future descendants) to disease and premature death.

In the past, understanding of diseases focused on the interaction among the genes we inherit (for diabetes, as an example) and our environment (like eating and exercise habits). But researchers have long puzzled about how the risks for, and frequency of, some conditions seem to change as quickly as from one generation to the next. After all, according to traditional genetics, major changes in the structure of the human genome only occurred over many generations or even thousands of years. But now, the concept of epigenetics is shedding new light on how such changes can occur much faster.

What This Means for Families

So is epigenetics just a topic of interest to scientists, or should it have an impact on the way we live now? Growing research seems to support the role of parental lifestyles and their (possibly permanent) effects on the health of their children, grandchildren, and beyond.

While you may not be able to undo the genetic “on/off switch” changes you’ve passed on to the kids you already have, living healthier now could be invaluable to the health of your future offspring — and their kids. Epigenetics doesn’t just apply to passing on potentially negative traits or health risks, but also to the benefits of inheriting healthy factors.

Scientists also are using the concept of epigenetics to develop new approaches to diseases with genetic roots. Drugs are now being produced that act by switching on or off faulty genes in epigenetic fashion. This type of genetic “quick fix” could be a very valuable strategy in the fight to prevent, treat, or cure a number of conditions, such as cancer, diabetes, and Alzheimer’s disease.