What Is Klinefelter Syndrome?
A female human will typically have 2 X Chromosomes, and a male human will typically have 1 X, and 1 Y chromosomes. Things don’t always go as they should do when babies are conceived however, and a newly conceived baby will sometimes have an abnormal number of chromosomes.
An abnormal number of chromosomes will sometimes have a profound effect on the health of the patient, but sometimes the patient will barely notice anything at all. There are numerous medical conditions that are caused by this, one of which is known as Klinefelter syndrome. It is thankfully a condition in which the symptoms tend to be relatively mild.
1. Klinefelter Syndrome
Klinefelter syndrome is a condition that is only found in boys. Boys with the condition will have an extra chromosome, meaning they have 2 X chromosomes and 1 Y chromosome. Despite having an abnormality genetically, boys with Klinefelter syndrome are still considered to be boys.
The syndrome will usually only cause mild symptoms, and many cases will not even be noticed until adulthood. There is no known cure for the condition, but many patients with Klinefelter syndrome will be in good health and go on to live relatively normal lives. It can cause serious complications in a small number of cases, however.
2. Causes
A mentioned, Klinefelter syndrome happens when the patient has an extra X chromosome. This is something that can happen when either r the father’s sperm, or a mother’s egg, is created with one X chromosome too many. This is completely random and it could happen to just about anybody.
The most common variety is that the patient will have an extra X chromosome in each of their cells. There is also mosaic Klinefelter syndrome, which means that only some of the cells have an extra X chromosome. Some patients will have more than once addition X chromosome, and this condition is likely to cause some severe symptoms for the patient.
3. Symptoms In Babies
The symptoms of Klinefelter disease are often not noticed until the patient reaches adulthood. They will sometimes be noticeable in babies however. One symptom that may be recognized at such a young age is that the baby’s testicles may not descend from the body into the scrotum after being born.
Another potential symptom is that the baby will be weaker than normal. They may also start speaking a little later than other children and they can also experience delays in crawling, walking, and sitting up. These symptoms will sometimes go unnoticed because even perfectly healthy babies can develop at different rates to each other.
4. Symptoms In Boys
When symptoms are evident in boys, they will often include weak bones, long legs, and being taller than usual. They will also sometimes have broader hips than usual, and a shorter torso than usual. The patient is also likely to have a small penis, small testicles, and they will also sometimes have breast tissue.
Boys with Klinefelter syndrome are also likely to enter into puberty late, if at all. The patient may also have less air than usual, and also less muscle mass. The condition may also cause the patent to have less energy than normal, and they may also be sensitive and shy. They can also have difficulty socializing, and they may also struggle academically.
5. Symptoms In Men
Men with Klinefelter will tend to have less muscle mass than other men do. They can also be taller than usual, and they are likely to have less body and facial hair than other men do. They are also likely to have more fat stored in the abdomen area, and they can also have breast tissue.
Klinefelter syndrome will also sometimes cause the patient to have weaker bones than usual. It can also cause them to have a smaller penis than usual as well as smaller testicles. The condition will also sometimes result in a low libido, while it can also cause the patient to have a low sperm count, or have no sperm at all.
6. Infertility
Many patients with Klinefelter syndrome will be infertile, although fertility treatments may be able to help them have children. The condition will also make the patient more likely to suffer from oral health problems. In addition, broken bones will be more likely to occur because of weak bones.
The patient will also be more prone to lung disease, as well as some cancers, including breast cancer. They can also suffer from metabolic syndrome, while the patient is also more likely to have autoimmune conditions. Klinefelter syndrome is also more likely to cause the patient to suffer from diseases with the blood vessels, and their heart.
7. Depression
Klinefelter syndrome will sometimes result in hypogonadism, which is lower than usual testosterone levels. This, in turn, can result in a number of unwelcome behavioral symptoms in addition to their physical symptoms. Klinefelter syndrome will also make it more likely that the patient will have autism spectrum disorder.
The patient can also be immature emotionally, while they will also sometimes display impulsive behavior. They can also suffer from a low self-esteem, and the patient is also likely to struggle socially. In some cases, Klinefelter syndrome will also result in the patient becoming depressed, and this will sometimes result in the patient taking their own life.
8. Who’s At Risk?
Although Klinefelter syndrome is one of the most common chromosomal disorders, it is still statistically likely to infect only 1 person in up to 800. The chances of the patient having severe symptoms are even less likely. However, any couple has an almost equal chance of having a Klinefelter baby than any other couple.
As mentioned, the risk of any person having Klinefelter syndrome is completely random. The patient’s health appears to have no bearing on the condition and there also appears to be no genetic link. There also appears to be no correlation in people from different ethnic backgrounds. However, the condition is very slightly more likely to occur when the mother is over the age of 35.
9. Diagnosis
Depending on the severity of the patient’s symptoms, the symptoms alone may be enough to inform your doctor about what is causing them. The doctor may also wish to perform a brief physical exam, possibly including an examination of the patient’s genitals. Further tests can be requested to help confirm the diagnosis.
Tests can include urine and blood samples that will help experts to look for abnormal levels of hormones like testosterone. Blood samples can also be used to perform a chromosome analysis. This test, which is called a karyotype analysis, can count the chromosome in cells, enabling experts to confirm the diagnosis.
10. Treatment
There is no known cure for Klinefelter syndrome. However, treatment is available that will help to manage the condition, and early treatment can help reduce the impact of the symptoms on the patient. Treatment will often involve testosterone hormone therapy, which can help the patient’s development if it is provided at the right time.
Some patients will need assistance with education, and speech therapy may also be deemed necessary in some cases. The removal of breast tissue is sometimes performed for aesthetic reasons, and fertility treatment is available for those who want children. Psychological therapy will also be beneficial in some cases.
