Klinefelter syndrome

Klinefelter's syndrome

Klinefelter syndrome (KLINE-fel-ter SIN-drome) is a genetic disorder in males caused by having one or more extra X chromosomes. Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles. They may learn to speak much later than other children and may have difficulty learning to read and write. Klinefelter syndrome increases the risk of developing extragonadal germ cell tumors and breast cancer.

Physical characteristics

Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys are never diagnosed.

Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Testosterone is the hormone that directs male sexual development before birth and during puberty. Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, and a reduced amount of facial and body hair. As a result of the small testes and decreased hormone production, affected males are infertile but may benefit from assisted reproductive technologies. Some affected individuals also have differences in their genitalia, including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).

Other physical changes associated with Klinefelter syndrome are usually subtle. Older children and adults with the condition tend to be somewhat taller than their peers. Other differences can include abnormal fusion of certain bones in the forearm (radioulnar synostosis), curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus).

Children with Klinefelter syndrome may have low muscle tone (hypotonia) and problems with coordination that may delay the development of motor skills, such as sitting, standing, and walking. Affected boys often have learning disabilities, resulting in mild delays in speech and language development and problems with reading. Boys and men with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves.

Individuals with Klinefelter syndrome tend to have anxiety, depression, impaired social skills, behavioral problems such as emotional immaturity and impulsivity, attention deficit hyperactivity disorder (ADHD), and limited problem-solving skills (executive functioning). About 10 percent of boys and men with Klinefelter syndrome have autism spectrum disorder.

Nearly half of all men with Klinefelter syndrome develop metabolic syndrome, which is a group of conditions that include type 2 diabetes, high blood pressure (hypertension), increased belly fat, high levels of fats (lipids) such as cholesterol and triglycerides in the blood. Compared with unaffected men, adults with Klinefelter syndrome also have an increased risk of developing involuntary trembling (tremors), breast cancer (if gynecomastia develops), thinning and weakening of the bones (osteoporosis), and autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis. (Autoimmune disorders are a large group of conditions that occur when the immune system attacks the body's own tissues and organs.)

Klinefelter syndrome affects about 1 in 650 newborn boys. It is among the most common sex chromosome disorders, which are conditions caused by changes in the number of sexchromosomes (the X chromosome and the Y chromosome).

47 XXY

Causes

Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most often, boys and men with Klinefelter syndromehave the usual X and Y chromosomes, plus one extra X chromosome, for a total of 47 chromosomes (47,XXY).

Boys and men with Klinefelter syndrome have an extra copy of multiple genes on the X chromosome. The activity of these extra genes may disrupt many aspects of development, including sexual development before birth and at puberty, and are responsible for the common signs and symptoms of Klinefelter syndrome. Researchers are working to determine which genes contribute to the specific developmental and physical differences that can occur with Klinefelter syndrome.

Some people with features of Klinefelter syndrome have an extra X chromosome in only some of their cells; other cells typically have one X and one Y chromosome. (Rarely, other cells may have additional chromosome abnormalities.) In these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY). It is thought that less than 10 percent of individuals with Klinefelter syndrome have the mosaic form. Boys and men with mosaic Klinefelter syndrome may have milder signs and symptoms than those with the extra X chromosome in all of their cells, depending on what proportion of cells have the additional chromosome.

Several conditions resulting from the presence of more than one extra sex chromosome in each cell are sometimes described as variants of Klinefelter syndrome. These conditions include 48,XXXY syndrome, 48,XXYY syndrome, and 49,XXXXY syndrome. Like Klinefelter syndrome, these conditions affect male sexual development and can be associated with learning disabilities and problems with speech and language development. However, the features of these disorders tend to be more severe than those of Klinefelter syndrome and affect more parts of the body. As doctors and researchers have learned more about the differences between these sex chromosome disorders, they have started to consider them as separate conditions.

Genetics

Klinefelter syndrome is not inherited; the addition of an extra X chromosome occurs during the formation of reproductive cells (eggs or sperm) in one of an affected person's parents. During celldivision, an error called nondisjunction prevents X chromosomes from being distributed normally among reproductive cells as they form. Typically, as cells divide, each egg cell gets a single X chromosome, and each sperm cell gets either an X chromosome or a Y chromosome. However, because of nondisjunction, an egg cell or a sperm cell can also end up with an extra copy of the X chromosome.

If an egg cell with an extra X chromosome (XX) is fertilized by a sperm cell with one Y chromosome, the resulting child will have Klinefelter syndrome. Similarly, if a sperm cell with both an X chromosome and a Y chromosome (XY) fertilizes an egg cell with a single X chromosome, the resulting child will have Klinefelter syndrome.

Mosaic Klinefelter syndrome (46,XY/47,XXY) is also not inherited. It occurs as a random error during cell division early in fetal development. As a result, some of the body's cells have the usual one X chromosome and one Y chromosome (46,XY), and other cells have an extra copy of the X chromosome (47,XXY).

Symptoms of Klinefelter syndrome (KS)

Because XXY males do not really appear different from other males and because they may not have any or have mild symptoms, XXY males often don't know they have KS.

In other cases, males with KS may have mild or severe symptoms. Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated.

KS symptoms fall into these main categories:

• Physical Symptoms
• Language and Learning Symptoms
• Social and Behavioral Symptoms
• Symptoms of Poly-X KS

Male with Klinefelter's with treatment

Physical Symptoms

Many physical symptoms of KS result from low testosterone levels in the body. The degree of symptoms differs based on the amount of testosterone needed for a specific age or developmental stage and the amount of testosterone the body makes or has available.

During the first few years of life, when the need for testosterone is low, most XXY males do not show any obvious differences from typical male infants and young boys. Some may have slightly weaker muscles, meaning they might sit up, crawl, and walk slightly later than average. For example, on average, baby boys with KS do not start walking until age 18 months.3

After age 5 years, when compared to typically developing boys, boys with KS may be slightly:

• Taller
• Fatter around the belly
• Clumsier
• Slower in developing motor skills, coordination, speed, and muscle strength

Puberty for boys with KS usually starts normally. But because their bodies make less testosterone than non-KS boys, their pubertal development may be disrupted or slow. In addition to being tall, KS boys may have:

• Smaller testes and penis
• Breast growth (about one-third of teens with KS have breast growth)
• Less facial and body hair
• Reduced muscle tone
• Narrower shoulders and wider hips
• Weaker bones, greater risk for bone fractures
• Decreased sexual interest
• Lower energy
• Reduced sperm production

An adult male with KS may have these features:

• Infertility: Nearly all men with KS are unable to father a biologically-related child without help from a fertility specialist.
• Small testes, with the possibility of testes shrinking slightly after the teen years5
• Lower testosterone levels, which lead to less muscle, hair, and sexual interest and function
• Breasts or breast growth (called gynecomastia, pronounced GUY-nuh-kow-mast-ee-uh).

In some cases, breast growth can be permanent, and about 10% of XXY males need breast-reduction surgery.

Language and Learning Symptoms

Most males with KS have normal intelligence quotients (IQs) and successfully complete education at all levels. (IQ is a frequently used intelligence measure, but does not include emotional, creative, or other types of intelligence.) Between 25% and 85% of all males with KS have some kind of learning or language-related problem, which makes it more likely that they will need some extra help in school. Without this help or intervention, KS males might fall behind their classmates as schoolwork becomes harder.

KS males may experience some of the following learning and language-related challenges:

• A delay in learning to talk. Infants with KS tend to make only a few different vocal sounds. As they grow older, they may have difficulty saying words clearly. It might be hard for them to distinguish differences between similar sounds.
• Trouble using language to express their thoughts and needs. Boys with KS might have problems putting their thoughts, ideas, and emotions into words. Some may find it hard to learn and remember some words, such as the names of common objects.
• Trouble processing what they hear. Although most boys with KS can understand what is being said to them, they might take longer to process multiple or complex sentences. In some cases, they might fidget or "tune out" because they take longer to process the information. It might also be difficult for KS males to concentrate in noisy settings. They might also be less able to understand a speaker's feelings from just speech alone.
• Reading difficulties. Many boys with KS have difficulty understanding what they read (called poor reading comprehension). They might also read more slowly than other boys.

By adulthood, most males with KS learn to speak and converse normally, although they may have a harder time doing work that involves extensive reading and writing.

Social and Behavioral Symptoms

Many of the social and behavioral symptoms in KS may result from the language and learning difficulties. For instance, boys with KS who have language difficulties might hold back socially and could use help building social relationships.

Boys with KS, compared to typically developing boys, tend to be:

• Quieter
• Less assertive or self-confident
• More anxious or restless
• Less physically active
• More helpful and eager to please
• More obedient or more ready to follow directions

In the teenage years, boys with KS may feel their differences more strongly. As a result, these teen boys are at higher risk of depression, substance abuse, and behavioral disorders. Some teens might withdraw, feel sad, or act out their frustration and anger.

As adults, most men with KS have lives similar to those of men without KS. They successfully complete high school, college, and other levels of education. They have successful and meaningful careers and professions. They have friends and families.

Contrary to research findings published several decades ago, males with KS are no more likely to have serious psychiatric disorders or to get into trouble with the law.

Symptoms of Poly-X KS

Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in males with KS. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. Poly-KS males might also show slight differences in other physical features.

Some common additional symptoms for several poly-X Klinefelter syndromes are listed below.

48,XXYY

• Long legs
• Little body hair
• Lower IQ, average of 60 to 80 (normal IQ is 90 to 110)
• Leg ulcers and other vascular disease symptoms
• Extreme shyness, but also sometimes aggression and impulsiveness

48,XXXY (or tetrasomy)

• Eyes set further apart
• Flat nose bridge
• Arm bones connected to each other in an unusual way
• Short
• Fifth (smallest) fingers curve inward (clinodactyly, pronounced KLAHY-noh-dak-tl-ee)
• Lower IQ, average 40 to 60
• Immature behavior

49,XXXXY (or pentasomy)

• Low IQ, usually between 20 and 60
• Small head
• Short
• Upward-slanted eyes
• Heart defects, such as when the chambers do not form properly12
• High feet arches
• Shy, but friendly
• Difficulty with changing routines

Treatments for Klinefelter syndrome (KS)

It's important to remember that because symptoms can be mild, many males with KS are never diagnosed are treated.

The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. It is especially helpful to begin treatment by early puberty. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. However, treatment can bring benefits at any age.

The type of treatment needed depends on the type of symptoms being treated.

Treating Physical Symptoms

Treating Language and Learning Symptoms

Treating Social and Behavioral Symptoms

Treating Physical Symptoms

Treatment for Low Testosterone

About one-half of XXY males' chromosomes have low testosterone levels.4 These levels can be raised by taking supplemental testosterone. Testosterone treatment can:

• Improve muscle mass
• Deepen the voice
• Promote growth of facial and body hair
• Help the reproductive organs to mature
• Build and maintain bone strength and help prevent osteoporosis in later years
• Produce a more masculine appearance, which can also help relieve anxiety and depression
• Increase focus and attention
• There are various ways to take testosterone:
• Injections or shots, every 2 to 3 weeks
• Pills
• Through the skin, also called transdermal (pronounced tranz-DERM-ul); current methods include wearing a testosterone patch or rubbing testosterone gel on the skin

Males taking testosterone treatment should work closely with an endocrinologist (pronounced en-doe-kren-AWL-oh-jist), a doctor who specializes in hormones and their functions, to ensure the best outcome from testosterone therapy. For information on how to find an endocrinologist, see the Resources and Publications section.

Is testosterone therapy right for every XXY male?

Not all males with XXY condition benefit from testosterone therapy.

For males whose testosterone level is low to normal, the benefits of taking testosterone are less clear than for when testosterone is very low. Side effects, although generally mild, can include acne, skin rashes from patches or gels, breathing problems (especially during sleep), and higher risk of an enlarged prostate gland or prostate cancer in older age. In addition, testosterone supplementation will not increase testicular size, decrease breast growth, or correct infertility.

Although the majority of boys with KS grow up to live as males, some develop atypical gender identities. For these males, supplemental testosterone may not be suitable. Gender identity should be discussed with health care specialists before starting treatment.

Treatment for Enlarged Breasts

No approved drug treatment exists for this condition of over-developed breast tissue, termed gynecomastia. Some health care providers recommend surgery—called mastectomy (pronounced ma-STEK-tuh-mee)—to remove or reduce the breasts of XXY males.

When adult men have breasts, they are at higher risk for breast cancer than other men and need to be checked for this condition regularly. The mastectomy lowers the risk of cancer and can reduce the social stress associated with XXY males having enlarged breasts.

Because it is a surgical procedure, mastectomy carries a variety of risks. XXY males who are thinking about mastectomy should discuss all the risks and benefits with their health care provider.

Treatment for Infertility

Between 95% and 99% of XXY men are infertile because they do not produce enough sperm to fertilize an egg naturally. But, sperm are found in more than 50% of men with KS.

Advances in assistive reproductive technology (ART) have made it possible for some men with KS to conceive. One type of ART, called testicular sperm extraction with intracytoplasmic (pronounced in-trah-sigh-toe-PLAZ-mick) sperm injection (TESE-ICSI), has shown success for XXY males. For this procedure, a surgeon removes sperm from the testes and places one sperm into an egg.

Like all ART, TESE-ICSI carries both risks and benefits. For instance, it is possible that the resulting child might have the XXY condition. In addition, the procedure is expensive and is often is not covered by health insurance plans. Importantly, there is no guarantee the procedure will work.

Recent studies suggest that collecting sperm from adolescent XXY males and freezing the sperm until later might result in more pregnancies during subsequent fertility treatments This is because although XXY males may make some healthy sperm during puberty, this becomes more difficult as they leave adolescence and enter adulthood.

Treating Language and Learning Symptoms

Some, but not all, children with KS have language development and learning delays. They might be slow to learn to talk, read, and write, and they might have difficulty processing what they hear. But various interventions, such as speech therapy and educational assistance, can help to reduce and even eliminate these difficulties. The earlier treatment begins, the better the outcomes.

Parents might need to bring these types of problems to the teacher's attention. Because these boys can be quiet and cooperative in the classroom, teachers may not notice the need for help.

Boys and men with KS can benefit by visiting therapists who are experts in areas such as coordination, social skills, and coping. XXY males might benefit from any or all of the following:

• Physical therapists design activities and exercises to build motor skills and strength and to improve muscle control, posture, and balance.
• Occupational therapists help build skills needed for daily functioning, such as social and play skills, interaction and conversation skills, and job or career skills that match interests and abilities.
• Behavioral therapists help with specific social skills, such as asking other kids to play and starting conversations. They can also teach productive ways of handling frustration, shyness, anger, and other emotions that can arise from feeling "different."
• Mental health therapists or counselors help males with KS find ways to cope with feelings of sadness, depression, self-doubt, and low self-esteem. They can also help with substance abuse problems. These professionals can also help families deal with the emotions of having a son with KS.
• Family therapists provide counseling to a man with KS, his spouse, partner, or family. They can help identify relationship problems and help patients develop communication skills and understand other people's needs.

Parents of XXY males have also mentioned that taking part in physical activities at low-key levels, such as karate, swimming, tennis, and golf, were helpful in improving motor skills, coordination, and confidence.

With regard to education, some boys with KS will qualify to receive state-sponsored special needs services to address their developmental and learning symptoms. But, because these symptoms may be mild, many XXY males will not be eligible for these services. Families can contact a local school district official or special education coordinator to learn more about whether XXY males can receive the following free services:

• The Early Intervention Program for Infants and Toddlers with Disabilities is required by two national laws, the Individuals with Disabilities and Education Improvement Act (IDEIA) and the Individuals with Disabilities Education Act (IDEA). Every state operates special programs for children from birth to age 3, helping them develop in areas such as behavior, development, communication, and social play.
• An Individualized Education Plan (IEP) for school is created and administered by a team of people, starting with parents and including teachers and school psychologists. The team works together to design an IEP with specific academic, communication, motor, learning, functional, and socialization goals, based on the child's educational needs and specific symptoms.

Treating Social and Behavioral Symptoms

Many of the professionals and methods for treating learning and language symptoms of the XXY condition are similar to or the same as the ones used to address social and behavioral symptoms.

For instance, boys with KS may need help with social skills and interacting in groups. Occupational or behavioral therapists might be able to assist with these skills. Some school districts and health centers might also offer these types of skill-building programs or classes.

In adolescence, symptoms such as lack of body hair could make XXY males uncomfortable in school or other social settings, and this discomfort can lead to depression, substance abuse, and behavioral problems or "acting out." They might also have questions about their masculinity or gender identity. In these instances, consulting a psychologist, counselor, or psychiatrist may be helpful.

Contrary to research results released decades ago, current research shows that XXY males are no more likely than other males to have serious psychiatric disorders or to get into trouble with the law.

Klinefelter's body morphology

Diagnosing Klinefelter syndrome (KS)

The only way to confirm the presence of an extra chromosome is by a karyotype (pronounced care-EE-oh-type) test. A health care provider will take a small blood or skin sample and send it to a laboratory, where a technician inspects the cells under a microscope to find the extra chromosome. A karyotype test shows the same results at any time in a person's life.

Tests for chromosome disorders, including KS, may be done before birth. To obtain tissue or liquid for this test, a pregnant woman undergoes chorionic villus (pronounced KAWR-ee-on-ik vil-uhs) sampling or amniocentesis (am-nee-oh-sen-TEE-sis). These types of prenatal testing carry a small risk for miscarriage and are not routinely conducted unless the woman has a family history of chromosomal disorders, has other medical problems, or is above 35 years of age.

Factors that Influence when KS is Diagnosed

Because symptoms can be mild, some males with KS are never diagnosed.

Several factors affect whether and when a diagnosis occurs:

• Few newborns and boys are tested for or diagnosed with KS.
  • Although newborns in the United States are screened for some conditions, they are not screened for XXY or other sex-chromosome differences.
  • In childhood, symptoms can be subtle and overlooked easily. Only about 1 in 10 males with KS is diagnosed before puberty.
  • Sometimes, visiting a health care provider will not produce a diagnosis. Some symptoms, such as delayed early speech, might be treated successfully without further testing for KS.
• Most XXY diagnoses occur at puberty or in adulthood.
  • Puberty brings a surge in diagnoses as some males (or their parents) become concerned about slow testes growth or breast development and consult a health care provider.
  • Many men are diagnosed for the first time in fertility clinics.3 Among men seeking help for infertility, about 15% have KS;

Is there a cure for Klinefelter syndrome (KS)?

Currently, there is no way to remove chromosomes from cells to "cure" the XXY condition.

But many symptoms can be successfully treated, minimizing the impact the condition has on length and quality of life. Most adult XXY men have full independence and have friends, families, and normal social relationships. They live about as long as other men, on average.

Klinefelter Syndrome (KS): Other FAQs

Basic information for topics, such as "What is it?" and "How many people are affected?" is available in the Condition Information section. In addition, Frequently Asked Questions (FAQs) that are specific to a certain topic are answered in this section.

Are there disorders or conditions associated with KS?

Can KS lead to cancer?

If I have KS, will I be able to get a woman pregnant?

If my son, family member, partner, or spouse is diagnosed with XXY condition, how can I help him and the family?

What is the best way to teach or communicate with males who have KS?

Are there disorders or conditions associated with KS?

Males with KS are at higher risk for some other health conditions, for reasons that are not fully understood. But these risks can be minimized by paying attention to symptoms and treating them appropriately.

Associated conditions include:

• Autoimmune disorders, such as type 1 diabetes, rheumatoid arthritis, hypothyroidism, and lupus. In these disorders, the immune cells attack parts of the body instead of protecting them.
• Breast cancer. Males with KS have a higher risk of developing this cancer, although still a lower risk than females'. XXY males should pay attention to any changes in their breasts, such as lumps or any leakage from the nipple, and should see their health care provider right away if they have any concerns.
• Venous (pronounced VEE-nuss) disease, or diseases of the arteries and veins. Some of these include:
  • Varicose veins
  • Deep vein thrombosis (pronounced thrahm-BOW-siss), a blood clot in a deep vein
  • Pulmonary embolism (pronounced PUHL-muh-ner-ee EM-buh-liz-uhm), a blockage of an artery in the lungs
  • To reduce their risk, males can keep a normal body weight; get regular, moderate physical activity; quit smoking; and avoid sitting or standing in the same position for long periods of time. If venous diseases develop, they can be treated in different ways, depending on their severity. For instance, some treatments include wearing compression socks and others require taking blood thinner medications.
• Tooth decay. Almost one-half of men with KS have taurodontism (pronounced tawr-oh-DAWNT-iz-uhm), a dental problem in which the teeth have larger-than-normal chambers for holding pulp (the soft tissue that contains nerve endings and blood vessels) and shorter-than-normal tooth roots, both of which make it easier for tooth decay to develop. Regular dental check-ups and good oral hygiene habits will help prevent, catch, and treat problems.1
• Osteoporosis (pronounced os-tee-oh-puh-ROH-sis), in which bones lose calcium, become brittle, and break more easily, may develop over time in KS males who have low testosterone levels for long periods of time. Testosterone treatment; regular, moderate physical activity; and eating a healthy diet can decrease the risk of osteoporosis. If the disease develops, medications can help limit its severity.

Can KS lead to cancer?

Compared with the general male population, men with KS may have a higher chance over time of getting breast cancer, non-Hodgkin lymphoma, and lung cancer. There are ways to reduce this risk, such as removing the breasts and avoiding use of tobacco products. In general, XXY males are also at lower risk for prostate cancer.

If I have KS, will I be able to get a woman pregnant?

It is possible that an XXY male could get a woman pregnant naturally. Although sperm are found in more than 50% of men with KS3, low sperm production could make conception very difficult.

A few men with KS have recently been able to father a biologically related child by undergoing assisted fertility services, specifically, a procedure called  testicular sperm extraction with intracytoplasmic sperm injection (TESE-ICSI). TESE-ICSI, this carries a slightly higher risk of chromosomal disorders in the child, including having an extra X.

If my son, family member, partner, or spouse is diagnosed with XXY condition, how can I help him and the family?

If someone you know is diagnosed with KS:

• Recognize your feelings. It is natural for parents or family members to feel that they have done something to cause KS. But, remember it is a genetic disorder that occurs at random—there is nothing you could have done or not done to prevent it from happening. Allow yourself and your family time to deal with your feelings. Talk with your health care provider about your concerns.
• Educate yourself about the disorder. It is common to fear the unknown. Educate yourself about the XXY condition and its symptoms so you know how you can help your son, family member, or partner/spouse.
• Support your son, family member, or partner/spouse. Provide appropriate education about KS and give him the emotional support and encouragement he needs. Remember, most XXY males go through life with few problems, and many never find out they have the condition.
• Be actively involved in your son's, family member's, or partner's/spouse's care. Talk with your health care provider and his health care provider about his treatment. If counseling for behavioral problems is needed, or if special learning environments or methods are needed, get help from qualified professionals who have experience working with XXY males.
• Encourage your son, family member, partner/spouse to do activities to improve his physical motor skills, such as karate or swimming.
• Work with your teachers/educators and supervisors/co-workers.
  • Contact these people regularly to compare how he is doing at home and at school/work.
  • When appropriate, encourage him to talk with his teachers, educators, supervisor, and co-workers. Suggest using brief notes, telephone calls, and meetings to identify problems and propose solutions.
• Encourage your son's, family member's, partner's/spouse's independence.Although it is important to be supportive, realize that watching over too much can send the message that you think he is not able to do things on his own.
• Share the following information with health care providers about XXY problems:

XXY males may have	Consider recommending
Delayed early expressive language and speech milestones	Early speech therapy and language evaluation
Difficulty during transition from elementary school to middle school or high school	Re-testing to identify learning areas that require extra attention at or before entrance to middle/high school
Difficulty with math at all ages	Testing to identify problem areas and remediation for math disabilities
Difficulty with complex language processing, specifically with understanding and creating spoken language	Language evaluation, increased opportunities to communicate through written language, possibly getting written notes from lectures/discussions
Decreased running speed, agility, and overall strength in childhood	Physical therapy, occupational therapy, activities that build strength

What is the best way to teach or communicate with males who have KS?

Research has identified some ways in which educators and parents can improve learning and communication among XXY males, including:

• Using images and visual clues
• Teaching them new words
• Encouraging conversation
• Using examples in language
• Minimizing distractions
• Breaking tasks into small steps
• Creating opportunities for social interaction and understanding
• Reminding them to stay focused

Klinefelter syndrome Resources
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Classification	ICD-10: Q98.0-Q98.4 ICD-9-CM: 758.7 MeSH: D007713 SNOMED CT: 405770005
External resources	MedlinePlus: 000382 eMedicine: ped/1252