| Klinefelter syndrome, also known as the XXY syndrome, is a term used to describe males who have an extra X....Bright Tots Information on child development |
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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.
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 diagnosed.
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 males.
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 grade.
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.
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.
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 diagnosed.
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 males.
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 grade.
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.
| Klinefelter / XXY Syndrome |
| ________________________________________________________________________________________________________________________ Copyright © 2004 Bright Tots® Inc. - Educational Toys & Resource Guide to Child Development - All rights reserved. ________________________________________________________________________________________________________________________ |
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