I would like to pursue an
undertaking to raise awareness about a condition that is very common in males
by the name of Klinefelter’s syndrome. Five hundred out of a 1,000 males have
this syndrome but most likely don’t know that they do. Klinefelter’s syndrome
is a genetic disorder. In the process of meiosis an extra sex chromosome
combines in the fertilization process. Instead of getting a normal XY you get
an extra X making it XXY. There are other combinations but XXY is the most
common. Boys with an extra X chromosome look normal until puberty. Early diagnosis is a key factor for these individuals.
A few known conditions associated with Klinefelter’s are; delayed speech, gross
and fine motor delays, sensory integration difficulties, as well as reading and
written language difficulties. There are other conditions warranting why early
intervention is important also. Why is early diagnosis important? As you can
see it can help to intervene on developmental delays sooner. Interventions in
school can be put in place such as an IEP (Individual education Plan). Social
behavior situations and techniques can be addressed. One can gain a better
understanding of health concerns that could possibly become a complication as
they get older. Having recently been informed about my own son being diagnosed
with Klinefelter’s at the age of 17 and researching everything I could on the
topic, in hindsight a lot of things could have been addressed earlier which
might have made a difference for him.
Klinefelter’s
syndrome is diagnosed by a general physical at your doctor’s office and confirmed
by karyotyping (a type of genetic testing) done. Symptoms of Klinefelter’s that
show up during puberty are; testes are small, firm and nontender to palpations,
gynecomastia (breast tissue development), tall stature (height greater than arm
span), abnormal body proportions (length of lower body is greater than the
upper body), and crown-pubis length greater than pubis-floor. Other symptoms can
include; they are apt to have mental deficiency, clinodactyly (a bend or
curvature of the fifth fingers toward the adjacent fourth fingers) or
synostosis (fusion of two bones), they could also have problems with coordination
and social skills. Possible health issues include; ADHD, depression, fatigue, breast
cancer, chronic pulmonary disease, varicosities of the legs, thinning of the tooth’s
surface, osteoporosis and diabetes mellitus.
I knew my son had
some issues growing up but just thought he would outgrow it or that it was just
normal boy stuff. Things like; when he was playing t-ball, he didn’t really
become a part of the team socially, they put him in the outfield and he would
either sit down or run around throwing his mitt and then trying to catch it,
not focusing on what’s happening in the game at all. Maybe it was a simple case
of ADHD? I became more aware that he was very irritated by loud sounds like;
the TV, music, and yelling. He needed extra help when he started to learn to read.
His penmanship wasn’t really improving either. To this day his handwriting is
more like a 7th grader than an adult. Soon we discovered that he
needed help with math. The school had him tested and he just barely made the
cut off for being able to get help. He was quite smart but had difficulties in math
and language (putting his thoughts on paper). A pamphlet from AAKSIS (The
American Association for Klinefelter Syndrome Information and Support) states “Current
studies have shown that the diagnosis of Klinefelter syndrome does NOT indicate
mental retardation, deviant behavior or…Most individuals diagnosed with this
condition have average to superior intelligence with only about 20% scoring
below average.”
He actually has
severe anxiety; at first he would pull his eyebrows and eyelashes out (good
thing he was blonde, it wasn’t quite as noticeable),then he would bite his
fingernails down into the nail bed, sometimes making them red and even bleeding,
then he began picking at things all over his skin. We were able to get him on
some medication that seemed to help with those things but even now he wants
someone to be with him in a new situation or he feels like he’s going to go
into a major meltdown. After he knows how things are supposed to work he does
fine, it’s not an issue any more. Isn’t that the case with most of us in a new
situation that’s out of our comfort zone? So what would you think? For a long
time we really didn’t know if he had Asperger’s or PDD (Pervasive Development
Disorder, which is along the Autism spectrum). He had symptoms of all those
things but still wasn’t quite fitting into the categories of those disorders.
The reason I am telling you about these things is that those are somewhat
normal issues most kids have at one time or another. Just because a boy has
some of these symptoms, doesn’t mean that he has Klinefelter’s.
Intellectually I
was doing what I thought I could, taking him to the doctor, and getting help
with school among other things. I even took him to a social behavior class and
a program called “Learning Technics”. We
even had a comprehensive neurodevelopment evaluation done. Emotionally he was a
hard kid to do things with; following through with chores, bringing homework home
and worse, doing it but not turning it in. Trying to get him to bring friends
over, let alone go over to someone’s house to play or hangout. Calling someone
on the phone or talking to them face to face was almost nonexistent. A lot of
boys are this way, why would he be any different.
At his physical we
discovered some of the symptoms that appear during puberty, then other symptoms
all the sudden started falling into place; he was very tall & skinny, his
pants would stay up because he had just a little bit of hip bone, sparse facial
and body hair, less muscular than most males. After it was confirmed that he
had Klinefelter’s, we understood about the learning difficulties, the social
issues, the anxiety, the low testosterone, the infertility and more. We now had
a diagnosis that he fit into. Why didn’t they catch it sooner? How could we
help to prevent others from finding out so late? Most males don’t find out
until they try to have kids and then find out the reason they are infertile is
because they have Klinefelter’s.
Now that I have
become aware of the symptoms I can’t help but wonder if some of the people I come
across might have Klinefelter’s. It’s a touchy subject to say “I think your kid
has a genetic disorder”. How can we get
parents, educators and medical professionals to become more aware of things to
watch for? In a recent study it was discovered that there are cases of XXY that
identify either as female or intersex. So do we still call it Klinefelter’s or
should we call it an XXY syndrome? Are
the males who have XXY half female? All of these ideas are something to
consider but the bottom line is making people aware of the symptoms so they can
get it checked out. If there is an issue, then they can start benefiting from
the early interventions put in place like; special education or if they need to
have testosterone treatments, they may want to save any sperm they may have,
for in vitro fertilization later.
Education about it
in the form of a video on you tube, articles in community papers, blog posts or
passing out the pamphlets from AAKSIS for a resource. These are ways we can get
the information available to the public. Maybe we could include the pamphlet, with
the bag of samples, they usually receive with the puberty and sex education
course at their school. Maybe there could be a standard protocol for medical
professionals to use, that say if your child has 5 or more of these symptoms or
issues then we might want to do further testing. The medical professionals should be able to
hand out information with resources where to find more information as well as
support groups. Below are some visual examples of what Klinefelter’s might look
like:
In
conclusion by being able to diagnose Klinefelter’s early many interventions can
be put in place to help them become a successful working citizen in the
community. Interventions like special education, behavior therapy, medications,
hormone treatments, being aware of what possible medical conditions or complications
to watch for and vocational rehabilitation training. The key is knowledge about
Klinefelter’s and how well we are able to inform the public, about the symptoms
to be aware of and maybe what to watch for. It will also broaden our awareness
of other chromosomal abnormalities and how to help them fit into mainstream
society. We are all unique and have our own flaws and attributes that make us
who we are. In the end we all want to be loved, wanted and appreciated no
matter who or what we are.
