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Klinefelter's syndrome
Klinefelter's syndrome is a condition caused by a chromosomal
abnormality in males; sufferers have a pair of X chromosomes instead
of just one. The XXY chromosome arrangement is a common genetic
abnormality, occurring as frequently as 1 in 1,000 male births, but
the symptoms that may result from having the extra chromosome is less
common. Because of this extra chromosome, individuals with the
abnormality are usually referred to as "XXY Males" rather than as
"suffering from Klinefelter's syndrome."
In mammals with more than one X chromosome, the genes on all but one X
chromosome are barred from being expressed. This happens in XXY males
as well as XX females. A few genes, however, have corresponding genes
on the Y chromosome and are not barred. These triploid genes in XXY
males may be responsible for the symptoms of Klinefelter's syndrome.
In adults, the syndrome is characterised by gynecomastia (enlarged
breasts), a rounded body type with abnormal body proportions, sparse
facial and body hair, small testes, and an inability to produce sperm.
Most XXY males have some degree of language impairment as well. The
syndrome is associated with an increased risk of breast cancer,
pulmonary disease, varicose veins, and osteoporosis.
The condition was identified in 1942 by Dr. Harry Klinefelter in
Boston. The cause was not found until the 1950s; the condition is
incurable, but its symptoms can be treated in a number of ways,
including testosterone treatment and other therapies.
What is Klinefelter's 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.
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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.
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.
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.
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.
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.
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.
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.
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."
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.
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.
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.
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.
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.
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