Klinefelter syndrome is a genetic condition that affects males, and is often not diagnosed until adulthood. Most males with the syndrome produce little or no sperm.
Do you know?Parents, Klinefelter syndrome affects about 1 in every 660 men,you know.
To learn more about this genetic disorder, here is more information about Klinefelter syndrome, including the causes and characteristics of Klinefelter syndrome.
Understanding Klinefelter Syndrome
LThe Mayo Clinic health page explains that Klinefelter syndrome is a genetic condition that occurs when a boy is born with an extra copy of the X chromosome.
Chromosomes are packages of genes found in every cell in the body. There are 2 types of chromosomes, called sex chromosomes, which determine the genetic sex of a baby. These are labeled X or Y.
Normally, baby girls have 2 X chromosomes (XX) and boys have 1 X and 1 Y (XY). But in Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY), the NHS explains.
The X chromosome is not a “female” chromosome and is present in everyone. The presence of the Y chromosome indicates male sex.
Boys and men with Klinefelter syndrome are still genetically male, and are often unaware that they have this extra chromosome, but it can sometimes cause problems that may require treatment.
This genetic disorder can affect the growth of the testicles, resulting in smaller-than-normal testicles, which can lead to lower testosterone production . It can also cause decreased muscle mass, decreased body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome vary, and not everyone has the same signs and symptoms.
Causes of Klinefelter Syndrome
So what causes Klinefelter Syndrome? Web MD writes, you get an extra X chromosome by chance. Either when an egg or sperm unites to give you an extra X chromosome or because older women have a slightly higher chance of having a boy with XXY syndrome, but this is unlikely.
Men with Klinefelter may have:
- An extra X chromosome in each cell (the most common)
- An extra X chromosome in just a few cells, called Klinefelter mosaic, where you don’t have many symptoms
- More than one extra X chromosome, which is very rare and more severe.
Characteristics of Klinefelter Syndrome
The symptoms and characteristics of Klinefelter syndrome vary widely among males with the disorder. Many boys with the syndrome show few or only mild signs.
The condition may not be diagnosed until adulthood or may never be diagnosed. For others, the condition has a noticeable effect on the person’s growth or appearance.
Symptoms and signs of Klinefelter syndrome also vary by age. Here is a full explanation as quoted by the Mayo Clinic.
Characteristics of Klinefelter syndrome in babies
Symptoms and features may include:
- Weak muscles
- Slow motor development — takes longer than average to sit, crawl, and walk
- Speech delay
- Problems at birth, such as testicles that have not descended into the scrotum
Characteristics of Klinefelter syndrome in boys and adolescents
Symptoms and features may include:
- Taller than average stature
- Longer legs, shorter torso and wider hips compared to other boys
- Puberty is absent, delayed or incomplete
- After puberty, there is less muscle tone and less facial and body hair compared to other adolescents.
- Small and firm testicles
- Small penis
- Enlargement of breast tissue (gynecomastia)
- Weak bones
- Low energy levels
- Tends to be shy and sensitive
- Difficulty expressing thoughts and feelings or socializing
- Problems with reading, writing, spelling or math
Characteristics of Adult Men
Symptoms and features may include:
- Low sperm count or no sperm
- Small testicles and penis
- Low sex drive
- Taller than average height
- Weak bones
- Reduced facial and body hair
- Less muscular compared to other men
- Breast tissue enlargement
- Belly fat increases.
When to Call a Doctor
Parents should see a doctor if you or your son has the following problems:
- Slow development during infancy or childhood. Delays in growth and development can be the first sign of a number of conditions that require treatment – including Klinefelter syndrome. While some variation in physical and mental development is normal, it’s best to check with your doctor if you have any concerns.
- Male infertility . Many men with Klinefelter syndrome are not diagnosed with infertility until they realize they are unable to father a child.
Risk Factors
Klinefelter syndrome results from a random genetic event. The risk of Klinefelter syndrome is not increased by anything the parents did or didn’t do. For older mothers, the risk is higher but only slightly, the Mayo Clinic explains.
Diagnosis
To diagnose Klinefelter syndrome, your doctor will start with a physical exam and ask questions about your symptoms and general health. They’ll likely examine your chest, penis, and testicles and perform some simple tests, such as checking your reflexes.
Web MD explains, Your doctor may then run two main tests, namely:
- Chromosome analysis. Also called karyotype analysis, this blood test looks at your chromosomes.
- Hormone tests. These check the levels of hormones in your blood or urine.
A small percentage of males with Klinefelter syndrome are diagnosed before birth. The syndrome may be identified in pregnancy during a procedure to examine fetal cells taken from the amniotic fluid (amniocentesis) or placenta. It can also occur in women who become pregnant after age 35 or have a family history of the genetic condition.
Klinefelter syndrome may be suspected during a noninvasive prenatal screening blood test. To confirm the diagnosis, further invasive prenatal testing such as amniocentesis is required.
Treatment and Medication
It’s never too late to treat Klinefelter’s, but the earlier you start, the better.
One common treatment is testosterone replacement therapy. This therapy involves taking medications that contain testosterone. It can be given as a gel or tablet in adolescents, or as a gel or injection in adult men.
Testosterone replacement therapy can be started at puberty and can lead to typical body changes, such as facial hair and a deeper voice. It can also help with penis size and stronger muscles and bones, reduced body fat, and increased energy.
Doing this therapy can also increase bone density and reduce the risk of fractures, and can improve mood and behavior but it will not affect testicular size or fertility.
Testosterone replacement therapy throughout your life can help prevent some of the long-term problems that accompany Klinefelter’s.
Other treatments include:
- Counselling and support for mental health issues
- Fertility treatments (in some cases, using your own sperm to father a child)
- Occupational therapy to help with coordination problems associated with dyspraxia (a movement and coordination disorder caused by abnormalities in the development of the nervous system)
- Physiotherapy to help build muscle and increase strength
- Breast reduction surgery to remove excess breast tissue
- Speech therapy for children to help develop speaking skills
- Support in schools to help with social skills and learning delays
- If your child has Klinefelter’s, things that may help include playing, sports and other physical activities to build muscle, or taking part in group activities to learn social skills.
Complications
Many of the problems caused by Klinefelter’s are due to lower testosterone levels. People with this syndrome may have a slightly higher chance of experiencing:
- Autoimmune problems , such as lupus and rheumatoid arthritis, where your immune system attacks healthy parts of your body
- Breast cancer and cancers that affect your blood, bone marrow and lymph nodes
- Metabolic syndrome, which includes type 2 diabetes, high blood pressure (hypertension), and high cholesterol and triglycerides (hyperlipidemia)
- Heart disease and problems with blood vessels
- Lung disease
- Mental health problems, such as anxiety and depression
- Social, emotional and behavioral problems, such as low self-esteem, emotional immaturity and impulsivity
- Dental and oral disorders that make cavities more likely to occur
- Autism spectrum disorder
- Learning difficulties (although intelligence is usually not affected)
- Weak and brittle bones, called osteoporosis .
A number of the above complications are caused by Klinefelter syndrome which is associated with low testosterone (hypogonadism).
These problems are usually treatable if they occur and testosterone replacement therapy can help reduce the risk of some of them, especially if therapy is started early in puberty.
Popular Questions Regarding Klinefelter Syndrome
Things related to Klinefelter syndrome can indeed cause their own concerns, especially for parents. Therefore, it is not surprising that there are still many questions related to the condition of Klinefelter syndrome.
Here are some frequently asked questions about Klinefelter syndrome. Check out the collection of questions and answers below!
What happens to people with Klinefelter syndrome?
Klinefelter syndrome is a type of genetic disorder. In this syndrome, sufferers will have an excess of 1 X chromosome (47, XXY), while normal men only have 1 X chromosome (46, XY). This extra chromosome interferes with sexual development in men and causes various symptoms.
Can Klinefelter syndrome have children?
Well, the good news is, based on the latest study conducted in 2008, it was found that sperm can still be obtained from 50 percent of sufferers of this syndrome. Moreover, with the advancement of assisted insemination techniques, the possibility of having offspring is even greater.
In other words, people with this syndrome who want to have children, the possibility still exists. As long as they have normal sperm cells.
Why does Klinefelter syndrome only occur in males?
Klinefelter syndrome occurs when a male is born with an extra X chromosome in his cells. Normally, males have XY sex chromosomes, while females have XX.
Well, the chromosome arrangement of a Klinefelter syndrome sufferer will be XXY, with a male gender. Well, because of this double X chromosome, the sufferer will have some female characteristics.
Will Klinefelter syndrome cause infertility?
People with this syndrome who want to have children, the possibility is still there. As long as they have normal sperm cells. However, do not turn away from the facts, because a small number of sperm cells will certainly be more difficult to fertilize a woman’s egg.
However, people with Klinefelter syndrome need not be discouraged. With the development of existing technology, there are still various ways that can be used to help have children. In conclusion, the opinion that Klinefelter syndrome causes infertility is not entirely true.
What is the karyotype of an individual suffering from Klinefelter syndrome?
The chromosomal abnormalities that occur in this syndrome are related to the sex chromosomes (X and Y). In Klinefelter syndrome, sufferers will have an excess of 1 X chromosome (47, XXY), while normal males only have 1 X chromosome (46, XY). This extra chromosome interferes with sexual development in males and causes a variety of symptoms.
These are the things that parents should understand about Klinefelter syndrome. Treatment can help boys and men with Klinefelter live happy and healthy lives. Advances in fertility treatments have made it possible for some people to father children. Hopefully the article above is useful, yes,Parents.
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Republished with permission from theAsianParent Indonesia
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