Many men are unaware that they even have Klinefelter Syndrome until they’re having difficulty conceiving a baby with their partner.
The reason that this disorder has such an impact on fertility is that most men who have Klinefelter Syndrome will be able to produce very little or no sperm at all.
Even if there is sperm present it will be in such small amounts that it’s impossible for the egg to be fertilized through natural intercourse.
ART (assisted reproductive technology) is really the only way that a man with Klinefelter’s is going to be able to father a child.
Just what is Klinefelter Syndrome?
Klinefelter Syndrome is a condition that only affects males. Normally males have two chromosomes that determine his sex.
A Y chromosome will be inherited from his father and an X chromosome will be inherited from his mother. Males who have Klinefelter will have an extra X chromosome.
Normally the female sex will have two sex chromosomes (XX) and males will have (XY). Males with Klinefelter’s Syndrome will have (XXY).
Having this extra X chromosome will interfere with sexual development which can, in turn, interfere with fertility.
This disorder is one of the most common genetic disorders that affect males. The condition is not inherited.
The additional X chromosome is the result of an abnormality either when the egg and sperm meet or sometime after conception.
There is nothing that a couple can do to ensure their child doesn’t have Klinefelter’s although there is some indication that lower egg quality from women over the age of 35 may be an added risk.
Indications that you have Klinefelter Syndrome
The difficulty with Klinefelter’s Syndrome is that some males will have no noticeable symptoms and therefore the condition can go unnoticed for many years, often until adulthood.
Other males will have some very obvious symptoms when they are babies and boys. For babies these symptoms can include:
- A delay in speech.
- Weak bones and muscles.
- Slow development of motor skills, such as crawling and walking.
- A meek personality.
- Testicles that don’t descend.
For boys and teenagers the symptoms are often more pronounced than babyhood:
- Gynecomastia (enlarged male breasts)
- A small penis
- Small testicles
- Weak bones
- Puberty that is delayed or absent completely
- Less body and facial hair than other teen boys
- Decreased energy
- Taller than average in height
- A shorter torso and longer legs than other teen boys
- Difficulty socializing with others
- A short attention span.
The signs that men have Klinefelter’s Syndrome include:
- A small penis.
- Small testicles.
- Less body and facial hair than other men.
- A decreased sex drive.
- Enlarged male breasts.
Parents who notice any of the above symptoms will want to have their child tested by their doctor. Any delay in the growth and development of male babies is a sign that there is something wrong. Early diagnosis means faster treatment.
There are certain tests that can correctly diagnose Klinefelter’s Syndrome. Hormone testing is done using a blood or urine sample.
Abnormal hormone levels and low testosterone is the first indicator of this disorder. A chromosome analysis will also be done.
Known as a “karyotype analysis” this test will confirm Klinefelter’s.
The Complications of Klinefelter Syndrome
Men who have Klinefelter’s will face a number of complications most of which are directly related to the fact that they have low levels of testosterone (hypogonadism).
The following are complications that are the cause of Klinefelter’s:
- The difficulty with sexual function
- Weak bones that can lead to osteoporosis
- Sparse body and facial hair
- An increased risk of male breast cancer
- An increased risk of disease including chronic bronchitis
- An increased risk of varicose veins which can then lead to other problems with the blood vessels as well as cancers of the bone marrow and blood
- An increased risk of Type I diabetes
- An increased risk of autoimmune disorders such as lupus.
While the above complications range from the mild to the extreme, men with Klinefelter’s will have to regularly see their doctor for early diagnosis of other diseases and conditions.
Will Treatment Save your Fertility?
Most men who are diagnosed with Klinefelter’s Syndrome won’t be producing any sperm in their testicles and therefore will be infertile.
Some men with the condition may be producing small amounts of sperm but not a sufficient number for conception to occur.
While testosterone therapy is used to help treat and prevent some of the complications of Klinefelter’s, hormone replacement won’t be able to help with sperm production.
Those men who still want to father a child may consider ICSI (intracytoplasmic sperm injection). This is an infertility treatment where the sperm is retrieved from the testicle and then directly injected into the egg.
This procedure will only benefit those men who have some sperm production. It’s important to know that ICSI is not successful for all couples.
Other alternatives will have to be considered for having a child such as artificial insemination using donor sperm.