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Understanding Klinefelter Syndrome
A Guide for XXY Males and Their Families
What Is Klinefelter Syndrome?
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.
By the late 1950s, researchers discovered that men with
Klinefelter syndrome, as this group of symptoms came to be called,
had an extra sex chromosome, XXY instead of the usual male
In the early 1970s, researchers around the world sought to
identify males having the extra chromosome by screening large
numbers of newborn babies. 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
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 widespread, the
syndrome itself-the set of symptoms and characteristics that may
result from having the extra chromosome-is uncommon. Many men
live out their lives without ever even suspecting that they have
an additional chromosome.
" I never refer to newborn babies as having Klinefelter's, because
they don't have a syndrome," said Arthur Robinson, M.D., a
pediatrician at the University of Colorado Medical School in
Denver and the director of the NICHD-sponsored study of XXY males.
"Presumably, some of them will grow up to develop the syndrome Dr.
Klinefelter described, but a lot of them won't."
For this reason, the term "Klinefelter syndrome" has fallen out of
favor with medical researchers. Most prefer 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
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 converse normally, the majority
tend to have some degree of difficulty with language throughout
their lives. If untreated, this language impairment can lead to
school failure and its attendant loss of self esteem.
Fortunately, however, this language disability usually can be
compensated for. Chances for success are greatest if begun in
early childhood. Sections that follow describe possible
strategies for meeting the special educational needs of many XXY
CHROMOSOMES AND KLINEFELTER SYNDROME
Chromosomes, the spaghetti-like strands of hereditary material
found in each cell of the body, determine such characteristics as
the color of our eyes and hair, our height, and whether we are
male or female.
Women usually inherit two X chromosomes-one from each parent. Men
tend to inherit an X chromosome from their mothers, and a Y
chromosome from their fathers. Most males with the syndrome Dr.
Klinefelter described, however, have an additional X chromosomes
total of two X chromosomes and one Y chromosome.
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 grantee Terry Hassold, a geneticist at Case
Western Reserve University in Cleveland, OH, show that half the
time, the extra chromosome comes from the father.
Dr. Hassold 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 having two X chromosomes, an XXY
male is conceived.
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.
"If I were going to say something to parents who have had a
prenatal diagnosis, it would be 'You are so lucky that you know,"
said Melissa, the mother of one XXY boy. "Because there are
parents who don't know that their sons have this problem. And
they will never be able to help them lead a normal life. But you
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
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.
What To Tell Families, Friends, And XXY Boys
Expectant parents awaiting the arrival of their XXY baby have
difficult choices to make: whom to tell-and how much to tell about
their son's extra chromosome. Fortunately, however, there are
some guidelines that new parents can take into account when making
One school of thought holds that the best course is to go on
slowly, waiting at least 1 year before telling anyone-grandparents included-about
the child's extra chromosome. Many
people are frightened by the diagnosis, and their fears will color
their perceptions of the child. For example, some people may
confuse the term Klinefelter syndrome with Down syndrome, a
condition resulting in mild to moderate mental retardation.
Others may prefer to reveal the diagnosis early. Some parents
have found that grandparents, aunts, uncles-and even extended
family members-are more supportive when given accurate information.
Another important decision parents must make is when to tell their son
about his diagnosis. Some experts recommend telling the child early. When
the truth is withheld, children often suspect that their parents are hiding
something and may imagine a condition that is worse than their actual
This school of thought maintains that by the time he is 10 or 11 years old,
the child can be told that his cells differ slightly from those of other
people. Soon after, he can be filled in on the details: that the cell
difference is due to an additional X chromosome, which is responsible for his
undersized testes and any reading difficulties he may have. At this time,
the child can be reassured that he does not have a disease and will not
become sick. The child should also be told that some people may
misunderstand this information and that he should exercise discretion in
sharing it with others.
By roughly the age of 12, depending on the child's emotional maturity, he can
be told that he will most probably be infertile. Parents should stress that
neither the X chromosome nor the infertility associated with it mean that he
is in any way less masculine than other males his age. The child's parents or
his physician can explain that although he may not be able to make a baby, he
can consider adopting one. Parents may also need to reassure an XXY boy
that his small testes will in no way interfere with his ability to have a
normal sex life.
Adherents of this school of thought believe that learning
about possible infertility in such a gradual manner will be less of a shock
than finding out about it all at once, late in the teen years.
Conversely, other experts believe that holding back the information does not
appear to do any harm. Instead, telling an XXY boy about his extra
chromosome too early may have some unpleasant consequences. An 11 or 12-year-old,
for example, may associate infertility with sexual disorders and
other concepts he may not yet understand.
Moreover, children, when making friends, tend to share secrets. But
childhood friendships may be fleeting, and early confidences are sometimes
betrayed. A malicious or thoughtless child may tell all the neighborhood
children that his former companion is a "freak" because he has an extra
For this reason, the best time to reveal the information may be mid-to-late
adolescence, when an XXY male is old enough to understand his condition and
better able to decide with whom he wishes to share this knowledge.
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.
"It's one of the conflicts they have," said Melissa, the mother of an XXY boy.
"My son can understand the conversations of other 10 year olds. But his
inability to use the language the way other 10-year olds use it makes him
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 schoolroom, 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
retain the same temperament and disposition 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.
Detecting Language Problems Early
The parents of XXY babies can compensate for their children's language
disability by providing special help in language development, beginning at an
early age. However, there is no easy formula 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. (The American Speech, Language and
Hearing Association, listed in the reference section, distributes a free
pamphlet on the stages of language development during the first 5 years of
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 acquisition of language. Such a hearing impairment may be a further
setback for an XXY child who is already having language difficulties.
Guidelines For Detecting Language Problems
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
xthe 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.
xhelp HELP UNDER THE LAW
According to Dr. Robinson, XXY boys do best in small, uncrowded classrooms
where teachers can give them a lot of individual attention. He suggests
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.
Chances for success are greatest for parents who are well informed and
work cooperatively with the schools to plan educational and related service
programs for their sons. For in-depth information on Public Law 94-142,
parents may contact the National Information Center for Children and Youth
with Disabilities (NICHCY), listed in the Resources section.
Parents may also wish to contact their local and state boards of education
for information on how the law has been implemented in their area. In
addition, local educational groups may be able to provide useful information
on working with school systems. Parents should also consider taking a
course in educational advocacy. The local public school system, the state
board of education, or local parents groups may be able to tell parents
where they can enroll in such a course.
For information on learning disabilities, parents can contact the Learning
Disabilities Association of America and the Orton Dyslexia Society, both
listed in the reference section.
Services for infants, toddlers and pre-schoolers
The chances for reducing the impact of a learning disability are greatest in
early childhood. Public Law 99-457 is an amendment to Public Law 94-142
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
(listed in the Resources section). The NICHCY (also listed in the Resources
section) distributes the brochure "A Parent's Guide to Accessing Programs
for Infants, Toddlers, and Preschoolers with Handicaps."
xteach TEACHING TIPS
XXY males often have decreased immediate auditory recall they have trouble
remembering what they have just heard. Parents and teachers can help them
remember by approaching memory through visual channels. Illustrating words
with pictures may help. Gesturing is another useful technique. For example,
a teacher might accompany the word "yes" with a nod of the head. Similarly,
shaking the head from side to side is the universal gesture for "no." Other
useful gestures include waving goodbye, showing the child an upraised palm
to indicate "stop," and holding the arms outstretched to mean "so big."
XXY males frequently have trouble finding the right word to describe an
object or a situation. Parents and teachers can help them build vocabulary
through a variety of techniques. One way is to provide them with synonyms,
such as pointing out that a car is also called an automobile. Another
important teaching tool is categorizing-showing the child that an item
belongs to a larger class of items. With this technique, a child could be told
that cars, buses, trucks, and bicycles are all vehicles, machines that carry
people and things from place to place.
Because XXY boys have difficulty expressing themselves, they may do poorly
on essay-style test questions. Multiple choice questions will give teachers
a better idea of what an XXY child has learned-and prove less stressful for
him as well. Similarly, rather than asking an open-ended question, parents
and teachers may wish to present alternatives. Instead of asking "What
would you 'like to do now?" they may wish to offer a choice: "Would you rather
work on your spelling or work on your math?"
Parents and teachers can help XXY boys develop the ability to express
themselves through solicited dialogue engaging them in conversation through
a series of questions. The same technique can be used to get the child to
develop his narrative (storytelling) abilities. For example, a parent might
begin by asking a child what he did at recess that day, and by following up
with questions that get the child to talk about his activities: "Did you go
down the slide? Were you afraid when you climbed all the way to the top of
the ladder? And then what? Did you go on the seesaw? Who sat on the other
Parents can also help XXY boys develop their expressive language abilities
simply by providing good examples. Through a technique known as modeling,
they can help organize their children's thoughts and provide them with
examples of how to express oneself. For instance, if a younger child
indicated that he wanted a toy fire engine by pointing at it and grunting, the
parent could hand it to him while saying "Here you are. This is a fire engine."
Similarly, if an older child asked "Are we going to put the stuff in the
thing?", the parent might reply "Yes, we're going to put the oranges in the
Research indicates that XXY boys may do poorly in an open classroom
situation and seem to prefer a structured, tightly organized environment
centered around familiar routines. First, teachers can reduce distraction
by placing them in front row seats. Teachers also should present
information slowly and repeat key points several times, if necessary. XXY
boys should not be given tasks that have many small steps. Rather, each
step should be presented individually. On completion, the child may then be
asked to work on the next item in the series.
As mentioned above, XXY boys may withdraw from material they find difficult
and retreat into day dreaming. A teacher or parent should gently regain the
child's attention and help him to focus again on the task at hand. Similarly,
XXY boys may have difficulty putting one task aside and beginning another
one. Again, the parent or teacher should gently shift the child's attention,
by saying something like "Drawing time is over. Let's put away the crayons
and take out the math book."
-adapted from John Graham et al., "Oral and Written Language Abilities of
XXY Boys: Implications for Anticipatory Guidance, " Pediatrics, Vol. 81 (6),
In general, XXY boys enter puberty normally, without any delay of physical
maturity. But as puberty progresses, they fail to keep pace with other
males. In chromosomally normal teenaged boys, the testes gradually
increase in size, from an initial volume of about 2 ml, to about 15 ml. In XXY
males, while the penis is usually of normal size, the testes remain at 2 ml,
and cannot produce sufficient quantities of the male hormone testosterone.
As a result, many XXY adolescents, although taller than average, may not be
as strong as other teenaged boys, and may lack facial or body hair<.
As they enter puberty, many boys will undergo slight breast enlargement.
For most teenaged males, this condition, known as gynecomastia, tends to
disappear in a short time. About one-third of XXY boys develop enlarged
breasts in early adolescence slightly more than do chromosomally normal
boys. Furthermore, in XXY boys, this condition may be permanent. However,
only about 10 percent of XXY males have breast enlargement great enough to
Most XXY adolescents benefit from receiving an injection of testosterone
every 2 weeks, beginning at puberty. The hormone increases strength and
brings on a more muscular, masculine appearance. More information about
testosterone and XXY males can be found in the section titled "Testosterone
Adolescence and the high school years can be difficult for XXY boys and their
families, particularly in neighborhoods and schools where the emphasis is on
athletic ability and physical prowess.
"They're usually tall, good-looking
kids, but they tend to be awkward," Dr. Robinson said of the XXY teenagers he
has met through his study. "They don't necessarily make good football
players or good basketball players."
Lack of strength and agility, combined with a history of learning
disabilities, may damage self-esteem. Unsympathetic peers, too,
sometimes may make matters worse, through teasing or ridicule.
"Lots of kids have a tough time during adolescence," Dr. Robinson said. "But
a higher proportion of XXY boys have a tough time. High school is very
competitive, and these kids are not very good competitors, in general."
Dr. Robinson again stressed, however, that while XXY males share many
characteristics, they cannot be pigeonholed into rigid categories. Several
of his patients have played football, and one, in particular, is an excellent
Damage to self esteem may be more severe in XXY teenagers who are
diagnosed in early or late adolescence. Teachers-and even parents-may
have dismissed their scholastic difficulties as laziness. Lack of athletic
prowess and the inability to use language properly in social settings may
have helped to isolate them from their peers. Some may react by sliding
quietly into depression and withdraw from contact with other people. Others
may find acceptance in a dangerous crowd.
For these reasons, XXY males diagnosed as teenagers may need psychological
counseling as well as help in overcoming their learning disabilities. Help
with learning disabilities is available through public school systems for XXY
males high-school age and under. Referrals to qualified mental health
specialists may be obtained from family physicians.
Ideally, 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, principally because of their scholastic 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 stick to 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
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.
Occasionally, variations of the XXY chromosome count may occur, the most
common being the XY/XXY mosaic. 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 mosaics 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
One group of researchers reported that after receiving testosterone
injections, an XXYY male stopped having violent sexual fantasies and ceased
his assaults on teenaged girls. in contrast, Dr. Robinson found that
testosterone injections seemed to make an XXYY boy he had been treating
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.
The parents of XXY boys are sometimes concerned that their sons may grow
up to be homosexual. This concern is unfounded, however, as there is no
evidence that XXY males are any more inclined toward homosexuality than are
In fact, the only significant sexual difference between XXY men and
teenagers and other males their age is that the XXY males may have less
interest in sex. However, regular injections of the male sex hormone
testosterone can bring sex drive up to normal levels.
In some cases, testosterone injections lead to a false sense of security:
After receiving the hormone for a time, XXY males may conclude they've
derived as much benefit from it as possible and discontinue the injections.
But when they do, their interest in sex almost invariably diminishes until
they resume the injections.
The vast majority of XXY males do not produce enough sperm to allow them to
become fathers. If these men and their wives wish to become parents, they
should seek counseling from their family physician regarding adoption and
However, no XXY male should automatically assume he is infertile
without further testing. In a very small number of cases, XXY males have
been able to father children.
In addition, a few individuals who believe themselves to be XXY males may
actually be XY/XXY mosaics. Along with having cells with the XXY chromosome
count, these males may also have cells with the normal XY chromosome count.
If the number of XY cells in the testes is great enough, the individual should
be able to father children.
Karyotyping, the method traditionally used to identify an individual's
chromosome count, may sometimes fail to identify XY/ XXY mosaics. For this
reason, a karyotype should never be used to predict whether an individual
will be infertile or not.
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. The
free booklet Breast Exams: What You Should Know is available from the
National Cancer Institute, listed in the Resources section. The last page of
the booklet is a pullout chart listing the instructions for breast self
examination. Although the booklet was written primarily for women, the
breast self examination technique also can be used by XXY males. 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.
Unfortunately, comparatively little is known about XXY adults. Studies in
the United States have focused largely on XXY males identified in infancy
from large random samples. Only a few of these individuals have reached
adulthood; most are still in adolescence. At this time, researchers simply do
not know what kind of adults they will become.
"Some of them have really
struggled through adolescence," said Dr. Bruce Bender, the psychologist for
the NICHD-sponsored study of XXY males. "But we don't know whether they'll
have serious problems in adulthood, or, like many troubled teenagers,
overcome their problems and lead productive lives."
Comparatively few studies of XXY males diagnosed in adulthood have been
conducted. By and large, the men who took part in these studies were not
selected at random but identified by a particular characteristic, such as
height. For this reason, it is not known whether these individuals are truly
representative of XXY men as a whole or represent a particular extreme.
One study found a group of XXY males diagnosed between the ages of 27 and
37 to have suffered a number of setbacks, in comparison to a similar group
of XY males. The XXY men were more likely to have had histories of
scholastic failure, depression and other psychological problems, and to lack
energy and enthusiasm.
But by the time the XXY men had reached their
forties, most had surmounted their problems. The majority said that their
energy and activity levels had increased, that they were more productive on
the job, and that their relationships with other people had improved. In
fact, the only difference between the XY males and the XXY males was that
the latter were less likely to have been married.
That these men eventually overcame their troubled pasts is encouraging for
all XXY males and particularly encouraging for those diagnosed in childhood.
Had they received counseling, support, and testosterone treatments
beginning in childhood, these men might have avoided the difficulties of their
twenties and thirties.
Although a supportive environment through childhood and adolescence
appears to offer the greatest chance for a well-adjusted adulthood, it is
not too late for XXY men diagnosed as adults to seek help.
shown that testosterone injections, begun in adulthood, can be beneficial.
Psychological counseling also offers the best hope of overcoming depression
and other psychological problems. For referrals to endocrinologists
qualified to administer testosterone or to mental health specialists, XXY
men should consult their physicians.
The Orton Dyslexia Society and the Learning Disabilities Association of
America, listed in the Resources section, can provide information on
overcoming a reading disability.
The American Speech Language and Hearing Association
10801 Rockville Pike
Rockville, MD 20852
Distributes a pamphlet parents may consult to determine if their children's
communication abilities are developing at a normal rate.
The Federation for Children with Special Need
95 Berkely Street, Suite 104
Boston, MA 02116
Maintains a listing of local and state agencies providing special educational
services for infants, toddlers, and preschoolers under Public Law 99-457
Association of America
4156 Library Road
Pittsburgh, PA 15234
Provides information on dyslexia and other learning disabilities. Has local
chapters throughout the country.
K' S. and Associated
P.O. Box 119
Roseville, CA 95678
Support group for XXY males as well as males with other sex chromosome
disorders. Operated by "Melissa," mother of a 12-year-old XXY boy Provides
literature on XXY males and other chromosome disorders, periodic newsletter.
The National Cancer Institute
Building 31, Room 1OA16
9000 Rockville Pike
Bethesda, MD 20982
Offers the free booklet Breast Exams: What You Should Know The last page of
the booklet is a pull-out chart listing the instructions for breast self
examination. Although the booklet was written primarily for women, the breast
self examination technique also can be used by XXY males.
The National Information
Center for Children and Youth
With Disabilities (NICHCY)
P.O. Box 1492
Washington, DC 20013
Distributes information on Public
Law 94-142, the Individuals with
Disabilities Education Act.
The Orton Dyslexia Society
Chester Building, Suite 382
8600 La Salle Road
Baltimore, MD 21286
Provides information on dyslexia. Has local chapters throughout the country
Information provided by the NIH.