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UNDERSTANDING
KLINEFELTER SYNDROME
A GUIDE FOR XXY MALES AND THEIR FAMILIES
Written by:
Robert Bock
Office of Research
Reporting, NICHD
NIH Pub. No.
93-3202
August 1993
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
arrangement, XY. (For a more complete explanation of the role this extra chromosome plays,
see the accompanying section, "Chromosomes
and Klinefelter syndrome.") 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 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 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 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 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 males.
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.
CAUSES
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.
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DIAGNOSIS
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 can." 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.
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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 their decisions. 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 diagnosis. 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
chromosome. 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.
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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. "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 stand out." 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.
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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 life.) 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.
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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 pathologist.
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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.
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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.
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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."
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| 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 end?" 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
shopping cart." 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), June 1988. |
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ADOLESCENCE
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 require surgery. 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
Treatment." 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
tennis player. 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. |
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TESTOSTERONE
TREATMENT 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 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. |
CHROMOSOMAL
VARIATIONS 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 of them. 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 more aggressive.
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.
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| SEXUALITY
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 other men. 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. |
INFERTILITY
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 infertility. 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.
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HEALTH
CONSIDERATIONS 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.
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ADULTHOOD
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.
Research has 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.
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RESOURCES
The American
Speech
Language and Hearing
Association
10801 Rockville Pike
Rockville, MD 20852
1-800-638-TALK
(301) 897-8682
Distributes a
pamphlet parents may consult to determine if their children's communication abilities are
developing at a normal rate.
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The Federation for
Children with Special Need
95 Berkely Street,
Suite 104
Boston, MA 02116
(617) 482-2915
Maintains a
listing of local and state agencies providing special educational services for infants,
toddlers, and preschoolers under Public Law 99-457
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Learning
Disabilities
Association of
America
4156 Library Road
Pittsburgh, PA 15234
(412) 341-1515
Provides
information on dyslexia and other learning disabilities. Has local chapters throughout the
country.
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K' S. and
Associated
P.O. Box 119
Roseville, CA 95678
Support group for
XXY males as well as males with other sex chromo-some disorders. Operated by
"Melissa," mother of a 12-year-old XXY boy Provides literature on XXY males and
other chromosome disorders, periodic newsletter.
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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.
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The National
Information
Center for Children
and Youth
With Disabilities
(NICHCY)
P.O. Box 1492
Washington, DC 20013
1-800-695-0285
(202) 884-8200
Distributes
information on Public Law 94-142, the Individuals with Disabilities Education Act.
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The Orton Dyslexia
Society
Chester Building,
Suite 382
8600 La Salle Road
Baltimore, MD 21286
(410) 296-0232
Provides
information on dyslexia. Has local chapters throughout the country
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This
website is designed for educational purposes only and is not
intended to serve as medical advice. The information provided on
this site should not be used for diagnosing or treating a health
problem or disease. It is not a substitute for professional care. If you
have or suspect you may have a health problem, you should consult
your health care provider . |
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