Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories
Klinefelter Syndrome: Symptoms, Causes, Diagnosis, And Treatment - WebMD
Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is also called XXY syndrome.
Men with Klinefelter usually don't know they have it until they run into problems trying to have a child. There's no cure, but doctors can treat it.
You get the extra X chromosome by chance. Either the egg or the sperm that came together to create you had an extra X chromosome. Older women have a slightly higher chance of having a boy with XXY syndrome, but the chance is small.
Men with Klinefelter may have:
Some men show symptoms of Klinefelter in childhood, but others don't know they have it until puberty or adulthood. Many men never realize that they have it because symptoms aren't always present.
Symptoms of Klinefelter vary with age and include:
Babies:
Children:
Teenagers:
Adults:
To diagnose Klinefelter syndrome, your doctor will start with a physical exam and ask questions about your symptoms and general health. They'll probably examine your chest, penis, and testicles and do a few simple tests, such as checking your reflexes.
Your doctor may then run two main tests:
It's never too late to treat Klinefelter, but the earlier you start, the better.
One common treatment is testosterone replacement therapy. It can start at puberty and can spur typical body changes, such as facial hair and a deeper voice. It can also help with penis size and stronger muscles and bones, but it won't affect testicle size or fertility.
Testosterone replacement therapy throughout your life can help prevent some of the long-term problems that come with Klinefelter.
Other treatments include:
If your child has Klinefelter, things that might help include:
Many problems caused by Klinefelter are because of lower testosterone levels. You may have a slightly higher chance of:
Treatment can help boys and men with Klinefelter live happy, healthy lives. Advances in fertility treatments have made it possible for some to father children. In general, life expectancy is normal. Some research has found that life expectancy for men with the condition may be a year or two less than those without it because of other health problems linked to Klinefelter.
For men with Klinefelter syndrome, here are some tips:
Here are some ways that you can support your child with Klinefelter syndrome:
People with Klinefelter syndrome (XXY syndrome) are born with an extra X chromosome, which can affect their development. The condition may caus symptoms such as low muscle strength, less body and facial hair, and learning or social challenges. Treatments, especially when started early, can help improve symptoms. For example, testosterone therapy can support muscle growth, voice changes, and bone health. With medical support and therapy, you can lead a healthy life.
Who discovered Klinefelter syndrome?
Henry Klinefelter, an American physician, discovered Klinefelter syndrome condition in the 1940s, which was named after him.
What Is Klinefelter Syndrome? - Everyday Health
Klinefelter syndrome is a common genetic chromosomal condition that occurs when a boy is born with an extra copy of the X chromosome.
Klinefelter syndrome can affect both physical and cognitive development.
According to the National Human Genome Research Institute, Klinefelter syndrome is found in about 1 out of every 500 to 1,000 newborn males, making it one of the most common chromosomal conditions. The Association for X and Y Chromosome Variations (AXYS), a group that focuses on Klinefelter syndrome and other similar conditions, estimates the Klinefelter occurrence at 1 in 600 male births.
Klinefelter Syndrome CausesKlinefelter syndrome occurs as the result of a random genetic error during the formation of the egg or sperm at or soon after conception, according to MedlinePlus.
The syndrome is not inherited through the parents' genes or the result of something the parents did or did not do.
Women who become pregnant after 35 years of age have a slightly increased risk of having a boy with Klinefelter syndrome, per the National Human Genome Research Institute.
People normally have 46 chromosomes in each cell. Two of those 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics.
Females usually have two X chromosomes, while males have one X chromosome and one Y chromosome.
However, Klinefelter syndrome occurs because of one extra copy of the X chromosome in each cell (XXY), notes the Mayo Clinic. Because Klinefelter syndrome involves an extra X chromosome, it is also sometimes referred to as 47,XXY syndrome, notes AXYS.
Some males with Klinefelter syndrome have the extra X chromosome only in some of their cells. When this occurs it is called mosaic Klinefelter syndrome, per the Mayo Clinic.
While rare, a similar but more severe condition known as 48,XXXY can occur when a male has two extra copies of the X chromosome, according to AXYS.
Klinefelter Syndrome SymptomsThe most common symptom of Klinefelter syndrome is infertility, which often isn't noticed until adulthood, notes the Mayo Clinic.
Klinefelter syndrome adversely affects testicular growth, resulting in smaller than normal testicles, which often leads to low production of testosterone.
Although most men with Klinefelter syndrome produce little or no sperm, reproductive procedures may make it possible for some men with the condition to father children.
The effects of Klinefelter syndrome vary from person to person, and signs and symptoms of the syndrome can appear differently at different ages, according to the Mayo Clinic.
Symptoms in babies:
Symptoms in boys and teenagers:
Symptoms in men:
Men with Klinefelter syndrome may be at increased risk for the following:
If you suspect that you or your son may have Klinefelter syndrome, your doctor will examine your (or your son's) genital area and chest, as well as conduct tests to check reflexes and mental functioning.
Additionally, the following tests are used to diagnose Klinefelter syndrome, per the Mayo Clinic:
Chromosomal Analysis Also called karyotype, this involves drawing a small sample of blood, which is sent to a lab to check the shape and number of chromosomes.
Hormone Testing This can be done through blood or urine samples and can detect if abnormal sex hormone levels — a sign of Klinefelter syndrome — are present.
Klinefelter Syndrome TreatmentWhile there is no cure for sex chromosome changes caused by Klinefelter syndrome, treatments can help minimize effects, especially when they're started early. Treatment may include the following:
Testosterone replacement therapy Since males with Klinefelter syndrome don't produce enough testosterone, undergoing testosterone replacement therapy at the onset of puberty can allow a boy to undergo the body changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass and penis size.
Testosterone therapy can also improve bone density and reduce the risk of fractures, but it will not enlarge the testicles or help with infertility.
Testosterone may be given as an injection or with a gel or patch on the skin.
Fertility Treatments Intracytoplasmic sperm injection (ICSI) can help men with minimal sperm production by removing sperm from the testicle and injecting it directly into a woman's egg.
Breast Tissue Removal For those who develop enlarged breasts, excess breast tissue can be removed with plastic surgery.
Educational Support Teachers, school counselors, or school nurses may be able to help with finding extra support for learning.
Speech and Physical Therapy These can help overcome problems with speech, language, and muscle weakness.
Psychological Counseling Whether from a family therapist, counselor, or psychologist, counseling can help people with Klinefelter syndrome work through emotional issues related to puberty, young adulthood, and infertility.
After Years Of Misdiagnoses, Lawrence Teen Found To Have Little-known ...
Brandon Urban and his 13-year-old son, Ben, joke with each other while playing a game of FIFA soccer on Nintendo Wii at their Lawrence home on a recent day. Ben was recently diagnosed with Klinefelter's syndrome, a rare disease that gives males an extra X chromosome. Brandon has been participating in charity events to raise money and awareness about the disorder.
Julie and Brandon Urban only wish they had the cards sooner. Then they could have handed them to people who stared at them whenever their son had a tandrum in public. "My child has Klinefelter Syndrome, a genetic condition in which boys have an extra 'X' chromosome — 47,XXY," the cards say. "Although it affects 1 in 600 males, it is typically underdiagnosed because its symptoms often mirror other diagnoses."
But therein lies the problem. Ben Urban was diagnosed with a variety of conditions — anxiety, bipolar disorder, autism, attention deficit hyperactivity disorder — before his mother did some Internet research and found that his symptoms matched those of Klinefelter's syndrome.
Brandon Urban and his 13-year-old son, Ben, joke with each other while playing a game of FIFA soccer on Nintendo Wii at their Lawrence home on a recent day. Ben was recently diagnosed with Klinefelter's syndrome, a rare disease that gives males an extra X chromosome. Brandon has been participating in charity events to raise money and awareness about the disorder.
So since Ben's diagnosis in October, the Urbans, who live in Lawrence, have been on an education campaign — thus the laminated cards — in which they've been informing his physicians, school and now the public about the little-known disorder. They not only want to ensure that Ben, 13, gets the proper education and medical care but prevent parents of children with Klinefelter's syndrome from having to go through what they did: years of misdiagnoses, confusion and frustration.
"We've had some challenging times with Ben," Julie said. "We tried everything. And the fact that nobody figured it out and I figured it out is sad."
One of the ways Brandon has been raising awareness about Klinefelter's syndrome was to play in a charity golf event last month organized by a friend of the family. At the Hundred Hole Hike in Holyoke, Colo., Brandon was on the course for more than 15 straight hours, playing 144 consecutive holes of golf and earning about $4,000 for the American Association for Klinefelter Syndrome Information and Support (he returned a week later to raise money for tiny-K Early Intervention of Douglas County, which helped one of his daughters overcome anxiety issues).
From the time Ben was 2, his parents knew something wasn't right. He had a short temper, would get depressed easily, couldn't communicate his feelings. It would sometimes take two or three people to get him into his car seat. He would get upset about a missing ceiling tile or an oddly shaped magazine rack. His development was slow.
Once he entered seventh grade, his grades began to slip. This alarmed Ben's mom, who started Googling. She eventually landed on a website that described Klinefelter's syndrome. Symptoms of the condition include tall stature, poor coordination, lack of social skills — and cognitive decline during the middle- and high-school years. "The pieces just fit together and I said, 'This is it,'" she recalled.
She brought him to the genetic clinic at Children's Mercy, where he tested positive for the extra X chromosome. Still, much of what the family has learned about the disease has come not from doctors but the American Association for Klinefelter Syndrome Information and Support, which has provided the Urbans with books and other reading materials about Klinefelter's that they then share with physicians and school officials.
"Everything we know today is from AAKSIS," Julie said. "That has been our major source of support." She said she once heard the condition described this way: "Everybody has 46 books on the shelf. Ben has 47, and he's going to have to carry that extra book for the rest of his life. And it's heavy." Nowadays, Julie says, she could spot a boy with Klinefelter's syndrome walking down the street: tall and thin, with disproportionately long arms and legs.
But the Urbans haven't even heard of another case of Klinefelter's in Kansas. Even so, they believe there are other Kansans out there with the disease, because it is so underdiagnosed. "This affects in 1 in 600 boys. They've got to be around here somewhere," Julie said.
Even though their son now has the proper diagnosis, the Urbans still have challenges ahead. They've been told that people with Klinefelter's generally have the most difficult time during their teenage years and live at home longer than the average male. But they've also learned that Ben, who communicates with them largely through text messaging ("When it's all caps, we know he's angry," his mom said), should be "stable" by the age of 25.
If only they would have gotten Ben's diagnosis sooner, they said, they could have avoided all the unnecessary treatments and medications — what Brandon called the "emotional rollercoaster" of Ben's early childhood — and gotten him into early intervention.
But they're at least glad they know now. Their son, who has to take testosterone shots for the rest of his life, has recently been working with therapists on his emotional issues and organizational skills.
As for Ben, he seems like any other shy teenager. He likes water parks and working in the school garden. He enjoys architecture and playing the trumpet. His favorite subject in school is science. "Because you get to do experiments and labs," he said.
He's also a goalie in a local soccer league. "I played for club last year," he said. "I got invited to premier." In addition, he and his dad have watched nearly every match of the recent World Cup and are big fans of the Sporting Kansas City soccer team. On a recent day, after his father celebrated upon scoring a goal against him in a soccer video game, Ben wasn't worried, saying: "He normally scores first."
His parents are hopeful that now that they know his diagnosis, the teen can have an easier life going forward. "Hopefully we have the right support in place," Julie said. "We just need to educate people."
Comments
Post a Comment