Klinefelter Syndrome and Male Fertility

What is Klinefelter syndrome?

Klinefelter syndrome is a genetic condition where there is an extra X chromosome present in a male’s genetic code. Instead of having a total of 46 chromosomes, they have 47 – with two copies of the X chromosomes and one copy of the Y chromosome (47XXY). One copy of the X chromosome and one copy of the Y chromosome constitute the 46 chromosomes that make up a typical male (46, XY). There are some forms of the syndrome where only some of the individual’s cells have this change, while their other cells have the normal 46 XY or they have another abnormality. These forms can be referred to as mosaic.

Klinefelter syndrome is a congenital condition; there are tests that can be done during pregnancy to diagnose it before the birth of the baby. However, in a majority of cases, it is diagnosed after birth. The baby can sometimes be diagnosed as they may often have a smaller penis than expected, or during teenage years as puberty does not happen as expected. Many males may not be diagnosed at all, or only when they start having fertility issues. In most cases, the problem with their fertility and puberty is due to the inability of the testes to produce adequate sperm and testosterone. This results in those individuals needing a testosterone replacement.

How common is Klinefelter syndrome?

The condition is fairly common, occurring in about 1 in 600 males. Many males, however, do not realize that they have the condition.

What causes Klinefelter syndrome?

The extra chromosome is usually gotten by a chance occurrence. It could be the egg or the sperm that has the extra chromosome that causes the condition. Older women have a higher chance of having a boy with the XXY chromosome. Men that have this syndrome may have any of the following:

• An extra X chromosome in every cell which is the most common occurrence.
• Mosaic Klinefelter which is an extra X chromosome only in some cells.
• More than one extra X chromosome which is very rare and more severe.

What are the symptoms of Klinefelter syndrome?

The symptoms may appear in some when they are children, but many others are not aware that they have the condition until they reach puberty or as adults. This is because the symptoms are not always present. The symptoms usually vary with age, they include:

For babies:

• Hernia
• Weaker muscles
• Slower to learn to sit up, crawl, or talk
• Testicles that have not descended into the scrotum

For children:

• Low energy levels
• Low confidence
• Problems with reading, writing
• Hard time making friends

For teenagers:

• Larger than normal breasts
• Less muscle tone
• Longer arms and legs, shorter torso, and wider hips than boys their age
• Puberty never comes, comes later, or is incomplete
• Smaller penis
• Small firm testicles
• Less facial and body hair
• Taller than average for the family

Adults:

• Low sex drive
• Low testosterone
• Problems in getting an erection
• Infertility due to inadequate sperm production

How is the condition diagnosed?

This is done by a doctor. It usually starts with a physical examination and general questions about the symptoms experienced and the health of the individual. Then they conduct examinations on the chest, the testicles, and the penis and examine the reflexes of the individual. They may then conduct two tests, they include:

• Chromosome analysis – Also called karyotype analysis, it examines the chromosomes
• Hormone tests – These examine the level of hormones in the blood or urine.

What is the treatment for Klinefelter syndrome?

The treatment is best started as early as possible. However, it is never too late to start it. One of the most common treatments is hormonal therapy. It can be started at puberty and can help drive the typical body changes that come with puberty like voice changes and body hair. It can also help with penis size and stronger bones and muscles. However, it does not affect the size of the testicles or improve fertility. Testosterone replacement therapy when given throughout the life of the affected individual can help in preventing some of the other long-term problems that come with the condition. Some of the other treatments include:

• Fertility treatments like assisted reproductive techniques which can help in fathering a child for the individuals
• Speech therapy
• Counseling and mental health support
• Physical therapy
• Occupational therapy
• Cosmetic surgery to reduce breast size

What are the complications of this syndrome?

Males with this syndrome are also more likely to develop conditions that can be referred to as a metabolic syndrome. These conditions include:

• High cholesterol
• Type 2 diabetes
• High blood pressure

They may also develop:

• Gynecomastia
• Tremors
• Breast cancer
• Seizures
• Autoimmune diseases
• Mental health problems
• Lung diseases

These conditions can be managed by handling the symptoms, which can include hormone therapy and physical and behavioral therapy.

Can Klinefelter syndrome be prevented?

This condition cannot be prevented as it is a genetic condition. It is a random error in the genetic code that happens before birth. The condition is not passed down through the family; that is, it is not heritable. There is nothing a parent can do to prevent their child from having Klinefelter syndrome.

What is the Prognosis of Klinefelter Syndrome? 

Klinefelter syndrome can vary widely in severity. Individuals with the milder form may not even know that they have Klinefelter syndrome. Some men with mild cases only discover that they have the condition during an infertility examination. Treatment of this syndrome can help boys and men live happier and healthier lives. Also, advances in fertility treatments have enabled some of the affected to father children. Their life expectancy is normal, generally. But because of the health issues that plague some of the men living with the condition, it has been found that the life expectancy may be less in them.