Klinefelter / XXY Syndrome
Klinefelter syndrome, also known as the XXY syndrome, is a term used to describe males who have an
extra X chromosome in most of their cells. Instead of having the usual XY chromosome pattern that most
males have, these men have an XXY pattern.

In 1942, Dr. Harry Klinefelter and his coworkers at the Massachusetts General Hospital in Boston published
a report about nine men who had enlarged breasts, sparse facial and body hair, small testes, and an inability
to produce sperm. One of the largest of these studies, sponsored by the National Institute of Child Health
and Human Development (NICHD), checked the chromosomes of more than 40,000 infants.

Based on these studies, the XXY chromosome arrangement appears to be one of the most common genetic
abnormalities known, occurring as frequently as 1 in 500 to 1 in 1,000 male births. Although the syndrome's
cause, an extra sex chromosome, is extensive, the syndrome itself-the set of symptoms and characteristics
that may result from having the extra chromosome, is rare. Many men live out their lives without ever even
suspecting that they have an additional chromosome.

Even though all men with Klinefelter syndrome have the extra X chromosome, not every XXY male has all
of those symptoms. Because not every male with an XXY pattern has all the symptoms of Klinefelter
syndrome, it is common to use the term
XXY male to describe these men, or XXY condition to describe
the symptoms.  Scientists believe the XXY condition is one of the most common chromosome abnormalities
in humans.  About one of every 500 males has an extra X chromosome, but many don’t show any

Symptoms of Klinefelter Syndrome / XXY Condition

Most medical researchers prefer the term XXY condition than Klinefelter Syndrome. Most favor to describe
men and boys having the extra chromosome as "XXY males."
In addition to occasional breast enlargement, lack of facial and body hair, and a rounded body type, XXY
males are more likely than other males to be overweight, and tend to be taller than their fathers and brothers.
For the most part, these symptoms are treatable. Surgery, when necessary, can reduce breast size. Regular
injections of the male hormone testosterone, beginning at puberty, can promote strength and facial hair
growth-as well as bring about a more muscular body type.

A far more serious symptom, however, is one that is not always readily apparent. Although they are not
mentally retarded, most XXY males have some degree of language impairment. As children, they often learn
to speak much later than do other children and may have difficulty learning to read and write. And while
they eventually do learn to speak and communicate normally, the majority tends to have some degree of
difficulty with language throughout their lives. If untreated, this language impairment can lead to school
failure and it’s associated to low self esteem.

Language Delay in Children with Klinefelter Syndrome

Shortly after the first birthday, children should be able to make their wishes known with simple one word
utterances. For example, a child may say "milk" to mean "I want more milk." Gradually, children begin to
combine words to produce two-word sentences, such as "More milk." By age three, most children use an
average of about four words per sentence.

If a child is not communicating effectively with single words by 18 to 24 months, then parents should seek
a consultation with a speech and language pathologist. Fortunately, however, this language disability usually
can be improved. Chances for success are greatest if begun in early childhood.

Not all males with the condition have the same symptoms or to the same degree.  Symptoms depend on how
many XXY cells a man has, how much testosterone is in his body, and his age when the condition is

Early Language Problems

The parents of XXY babies can strengthen their children's language disability by providing special help in
language development, beginning at an early age. However, there is no easy procedure to meet the language
needs of all XXY boys. Like everyone else, XXY males are unique individuals. A few may not have any
trouble learning to read and write, while the rest may have language impairments ranging from mild to severe.

If their son's speech seems to be lagging behind that of other children, parents should ask their child's
pediatrician for a referral to a speech pathologist for further testing. A speech pathologist specializes in the
disorders of voice, speech, and language.

Parents should also pay particular attention to their children's hearing. Like other small children, XXY infants
and toddlers may suffer from frequent ear infections. With any child, such infections may impair hearing
and delay the acquirement of language. Such a hearing impairment may be a further setback for an XXY
child who is already having language difficulties.

The XXY condition can affect three main areas of development:

Physical development: As babies, many XXY males have weak muscles and reduced strength.  They may
sit up, crawl, and walk later than other infants.  After about age four, XXY males tend to be taller and may
have less muscle control and coordination than other boys their age.

As XXY males enter puberty, they often don’t make as much testosterone as other boys.  This can lead to a
taller, less muscular body, less facial and body hair, and broader hips than other boys.  As teens, XXY males
may have larger breasts, weaker bones, and a lower energy level than other boys.

By adulthood, XXY males look similar to males without the condition, although they are often taller.  They
are also more likely than other men to have certain health problems, such as autoimmune disorders, breast
cancer, vein diseases, osteoporosis, and tooth decay.

XXY males can have normal sex lives, but they usually make little or no sperm.  Between 95 percent and 99
percent of XXY males are infertile because their body doesn’t produce sperm.

Language development: As boys, between 25 percent and 85 percent of XXY males have some kind of
language problem, such as learning to talk late, trouble using language to express thoughts and needs,
problems reading, and trouble processing what they hear.

As adults, XXY males may have a harder time doing work that involves reading and writing, but most hold
jobs and have successful careers.  

Social development: As babies, XXY males tend to be quiet and easygoing.  As they get older, they are
usually quieter, less self-confident, less active, and more helpful and obedient than other boys.

As teens, XXY males tend to be quiet and shy. They may struggle in school and sports, meaning they may
have more trouble “fitting in” with other kids.

However, as adults, XXY males live lives similar to men without the condition; they have friends, families,
and normal social relationships.

Possible Causes of Klinefelter Syndrome/ XXY Condition

No one knows what puts a couple at risk for conceiving an XXY child. Advanced maternal age increases the
risk for the XXY chromosome count, but only slightly. Furthermore, recent studies conducted by NICHD, a
geneticist, showed that half the time, the extra chromosome comes from the father. Researchers explained
that cells destined to become sperm or eggs undergo a process known as meiosis. In this process, the 46
chromosomes in the cell separate, ultimately producing two new cells having 23 chromosomes each. Before
meiosis is completed, however, chromosomes pair with their corresponding chromosomes and exchange
bits of genetic material.

In women, X chromosomes pair; in men, the X and Y chromosome pair. After the exchange, the
chromosomes separate, and meiosis continues. In some cases, the Xs or the X chromosome and Y
chromosome fail to pair and fail to exchange genetic material. Occasionally, this results in their moving
independently to the same cell, producing either an egg with two Xs, or a sperm having both an X and a Y
chromosome. When a sperm having both an X and a Y chromosome fertilizes an egg having a single X
chromosome, or a normal Y- bearing sperm fertilizes an egg.

Occasionally, variations of the XXY chromosome count may occur, the most common being the XY/XXY
combination. In this variation, some of the cells in the male's body have an additional X chromosome, and
the rest have the normal XY chromosome count. The percentage of cells containing the extra chromosome
varies from case to case. In some instances, XY/XXY combinations may have enough normally functioning
cells in the testes to allow them to father children.

A few instances of males having two or even three additional X chromosomes have also been reported in the
medical literature. In these individuals, the classic features of Klinefelter syndrome may be exaggerated, with
low I.Q. or moderate to severe mental retardation also occurring.

In rare instances, an individual may possess both an additional X and an additional Y chromosome. The
medical literature describes XXYY males as having slight to moderate mental retardation. They may
sometimes be aggressive or even violent. Although they may have a rounded body type and decreased sex
drive, experts disagree whether testosterone injections are appropriate for all of them.

Scientists admit, however, that because these cases are so rare, not much is known about them. Most of the
XXYY males who have been studied were referred to treatment because they were violent and got into
trouble with the law. It is not known whether XXYY males are inherently aggressive by nature, or whether
only a few extreme individuals come to the attention of researchers precisely because they are aggressive.

Finding a Diagnosis for Klinefelter Syndrome/ XXY Condition

Because they often don't appear any different from anyone else, many XXY males probably never learn of
their extra chromosome. However, if they are to be diagnosed, chances are greatest at one of the following
times in life: before or shortly after birth, early childhood, adolescence, and in adulthood (as a result of
testing for infertility).

In recent years, many XXY males have been diagnosed before birth, through amniocentesis or chorionic
villus sampling (CVS). In amniocentesis, a sample of the fluid surrounding the fetus is withdrawn. Fetal cells
in the fluid are then examined for chromosomal abnormalities. CVS is similar to amniocentesis, except that
the procedure is done in the first trimester, and the fetal cells needed for examination are taken from the
placenta. Neither procedure is used routinely, except when there is a family history of genetic defects; the
pregnant woman is older than 35, or when other medical indications are present.

The next most likely opportunity for diagnosis is when the child begins school. A physician may suspect a
boy is an XXY male if he is delayed in learning to talk and has difficulty with reading and writing. XXY boys
may also be tall and thin and somewhat passive and shy. Again, however, there are no guarantees. Some of
the boys who fit this description will have the XXY chromosome count, but many others will not.

A few XXY males are diagnosed at adolescence, when excessive breast development forces them to seek
medical attention. Like some chromosomally normal males, many XXY males undergo slight breast
enlargement at puberty. Of these, only about a third-10 percent of XXY males in all-will develop breasts
large enough to embarrass them.

The final chance for diagnosis is at adulthood, as a result of testing for infertility. At this time, an examining
physician may note the undersized testes characteristic of an XXY male. In addition to infertility tests, the
physician may order tests to detect increased levels of hormones known as gonadotropins, common in XXY

A karyotype is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. White blood
cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for
chromosomal abnormalities, such as an extra X chromosome.

Klinefelter Syndrome / XXY Condition during Childhood

According to Dr. Robinson, the director of the NICHD-funded study, XXY babies differ little from other
children their age. They tend to start life as what many parents call "good" babies-quiet, undemanding, and
perhaps even a little passive. As toddlers, they may be somewhat shy and reserved. They usually learn to
walk later than most other children, and may have similar delays in learning to speak.

In some, the language delays may be more severe, with the child not fully learning to talk until about age 5.
Others may learn to speak at a normal rate, and not meet with any problems until they begin school, where
they may experience reading difficulties. A few may not have any problems at all-in learning to speak or in
learning to read.

XXY males usually have difficulty with expressive language the ability to put thoughts, ideas, and emotions
into words. In contrast, their faculty for receptive language-understanding what is said-is close to normal. In
addition to academic help, XXY boys, like other language disabled children, may need help with social skills.
Language is essential not only for learning the school curriculum, but also for building social relationships.
By talking and listening, children make friends-in the process, sharing information, attitudes, and beliefs.
Through language, they also learn how to behave-not just in the classroom, but also on the playground. If
their sons' language disability seems to prevent them from fitting in socially, the parents of XXY boys may
want to ask school officials about a social skills training program.

Throughout childhood perhaps, even, for the rest of their lives-XXY boys maintain the same temperament
and character they first displayed as infants and toddlers. As a group, they tend to be shy, somewhat
passive, and unlikely to take a leadership role. Although they do make friends with other children, they tend
to have only a few friends at a time. Researchers also describe them as cooperative and eager to please.

The XXY Boy in the Classroom

Although there are exceptions, XXY boys are usually well behaved in the classroom. Most are shy, quiet,
and eager to please the teacher. But when faced with material they find difficult, they tend to withdraw into
quiet daydreaming. Teachers sometimes fail to realize they have a language problem, and dismiss them as
lazy, saying they could do the work if they would only try. Many become so quiet that teachers forget
they're even in the room. As a result, they fall farther and farther behind, and eventually may be held back a

Education for Children with Klinefelter Syndrome / XXY Boys

XXY boys do best in small, structured classrooms where teachers can give them a lot of individual attention.
It’s suggested that parents who can meet the expense consider sending their sons to a private school
offering special educational services.

Parents who cannot afford private schools should become familiar with Public Law 94-142, the Education
of the Handicapped Act, now called the Individuals with Disabilities Education Act. This law, adopted by
Congress in 1975, states that all children with disabilities have a right to a free, appropriate public education.
The law cannot ensure that every child who needs special educational services will automatically get them.
But the law does allow parents to take action when they suspect their child has a learning disability.

Parents may wish to contact their local and state boards of education for information on how the law has
been enforced in their area. In addition, local educational groups may be able to provide useful information
on working with school systems. The local public school system, the state board of education, or local
parents groups may be able to tell parents where they find more resources available in their area.

Services for infants, toddlers and pre-schoolers

The chances for reducing the impact of a learning disability are greatest in early childhood. Public Law is an
amendment that assists states in providing special educational services for infants, toddlers, and
preschoolers. Eligibility requirements and entrance procedures vary from state to state. To learn the agencies
to contact in their area, parents may call the Federation for Children with Special Needs at (800) 331-0688.

Treatments for Klinefelter Syndrome

The XXY chromosome pattern can not be changed. But, there are a variety of ways to treat the symptoms
of the XXY condition.

Educational treatments – As children, many XXY males qualify for special services to help them in
school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks
into small steps.
 Therapeutic options – A variety of therapists, such as physical, speech, occupational, behavioral, mental
health, and family therapists, can often help reduce or eliminate some of the symptoms of the XXY
condition, such as poor muscle tone, speech or language problems, or low self-confidence.
Medical treatments – Testosterone replacement therapy (TRT) can greatly help XXY males get their
testosterone levels into normal range. Having a more normal testosterone level can help develop bigger
muscles, deepen the voice, and grow facial and body hair. TRT often starts when a boy reaches puberty.
Some XXY males can also benefit from fertility treatment to help them father children.

Testosterone Treatment for XXY Males

One of the most important factors for all types of treatment is starting it as early in life as possible.
Preferably, XXY males should begin testosterone treatment as they enter puberty. XXY males diagnosed in
adulthood are also likely to benefit from the hormone. A regular schedule of testosterone injections will
increase strength and muscle size, and promote the growth of facial and body hair.

In addition to these physical changes, testosterone injections often bring on psychological changes as well.
As they begin to develop a more masculine appearance, the self-confidence of XXY males tends to increase.
Many become more energetic and stop having sudden, angry changes in moods. What is not clear is
whether these psychological changes are a direct result of testosterone treatment or are a side benefit of the
increased self confidence that the treatment may bring. As a group, XXY boys tend to suffer from
depression, mainly because of their academic difficulties and problems fitting in with other males their age.
Sudden, angry changes in mood are typical of depressed people.

Other benefits of testosterone treatment may include decreased need for sleep, an enhanced ability to
concentrate, and improved relations with others. But to obtain these benefits an XXY male must decide, on
his own, that he is ready to continue a regular schedule of injections. Sometimes, younger adolescents, who
may be somewhat immature, seem not quite ready to take the shots. It is an inconvenience, and many don't
like needles. Most physicians do not push the young-men to take the injections. Instead, they usually
recommend informing XXY adolescents and their parents about the benefits of testosterone injections and
letting them take as much time as they need to make their decision.

Individuals may respond to testosterone treatment in different ways. Although the majority of XXY males
ultimately will benefit from testosterone, a few will not. To ensure that the injections will provide the
maximum benefit, XXY males who are ready to begin testosterone injections should consult a qualified
endocrinologist (a specialist in hormonal interactions) who has experience treating XXY males.
Side effects of the injections are few. Some individuals may develop a minor allergic reaction at the injection
site, resulting in an itchy welt resembling a mosquito bite. Applying a non-prescription hydrocortisone cream
to the area will reduce swelling and itching.

In addition, testosterone injections may result in a condition known as benign prostatic hyperplasia (BPH).
This condition is common in chromosomally normal males as well, affecting more than 50 percent of men in
their sixties, and as many as 90 percent in their seventies and eighties. In XXY males receiving testosterone
injections, this condition may begin sometime after age 40.

The prostate is a small gland about the size of a walnut, which helps to manufacture semen. The gland is
located just beneath the bladder and surrounds the urethra, the tube through which urine passes out of the
body. In BPH, the prostate increases in size, sometimes squeezing the bladder and urethra and causing
difficulty urinating, "dribbling" after urination, and the need to urinate frequently.

XXY males receiving testosterone injections should consult their physicians about a regular schedule of
prostate examinations. BPH can often be detected early by a rectal exam. If the prostate greatly interferes
with the flow of urine, excess prostate tissue can be trimmed away by a surgical instrument that is inserted
in the penis, through the urethra.

Health Considerations in XXY Males

Compared with other males, XXY males have a slightly increased risk of autoimmune disorders. In this
group of diseases, the immune system, for unknown reasons, attacks the body's organs or tissues. The
most well known of these diseases are type I (insulin dependent) diabetes, autoimmune thyroiditis, and lupus
erythematosus. Most of these conditions can be treated with medication.

XXY males with enlarged breasts have the same risk of breast cancer as do women-roughly 50 times the
risk XY males have. For this reason, these XXY adolescents and men need to practice regular breast self
examination. XXY males may also wish to consult their physicians about the need for more thorough breast
examinations by medical professionals.

In addition, XXY males who do not receive testosterone injections may have an increased risk of developing
osteoporosis in later life. In this condition, which usually afflicts women after the age of menopause, the
bones lose calcium, becoming brittle and more likely to break.
www.brighttots.com          Developmental Disorders          Autism          Parenting Issues