Klinefelter’s Syndrome (referred to as KS) is a condition, which only occurs in males. It is a chromosomal genetic abnormality, which affects males found in all races, ethnic groups, and socioeconomic classes. In KS, boys have two X chromosomes constituting the makeup of the chromosome arrangement of 47,XXY rather than the usual one Y chromosome, which would be 46, XY. It is estimated that 1:500 to 1:1,000 ratio males have this genetic abnormality, which realistically covers 0.1 percent of incidence.
My interest in this syndrome is personal. I had a pregnancy in 1983, that was diagnosed as KS. Not only was there was little information about the disease, and the only information that the doctor handed me was a small pamphlet (5 x 7) that was maybe 10 pages, and all of the information included in it, was negative. I interpreted it parallel to Downs Syndrome. There were no support groups and my husband was totally against having the child. As a result, the pregnancy, into my 4th month, was terminated. I had to endure an actual labor process. It was the hardest and most regretful part of my life.
KS is described as an “accident of nature” in which an egg or sperm cell contains 24 instead of the usual 23 chromosomes. When fertilization takes place, the result is a total of 47 chromosomes in the fertilized egg, instead of the normal 46. There are also multiple aneuploidies such as 48,XXXY; 48,XXYY; and 49,XXXXY but it is somewhat rare, being the more common condition 47,XXY. This is the most common genetic abnormality known.
There is no known cause of the 47,XXY, but it has been demonstrated that it can originate in either the mothers’ egg or the father’s sperm. There appears to be a slight association with increased maternal age, but is less than found. Parents should be aware that there is nothing they did or did not do to cause KS in their child. Unless the mother has an amniocentesis, males will neither look nor behave in a manner, which would prompt testing for chromosome abnormality.
There are a wide variety of symptoms; however, these symptoms are not visual at birth. When the child reaches 6-12 months, their language acquisition is usually delayed along with depressed motor development. These children seem to share some personality traits; they seem to be shy, passive, immature, and dependent. Intelligence scores usually fall within normal limits, but are typically lower than their siblings, and tend to reflect lower verbal than non verbal (performance) skills.
XXY boys often are more physically active than other males. If this is channeled into play, sports or other physical activities, this fact is in no way negative. They develop normally in childhood and do not demonstrate an increased risk of diseases in childhood or adulthood. Parents and family members should be made aware that KS, 47,XXY is not necessarily associated with serious intellectual or emotional problems in childhood.
Since the Y-chromosome is responsible for the formation of the testes and masculine development, the presence of two X-chromosomes causes abnormal development. Puberty develops at the usual time and results in a normal size penis, but the testes are small. Body hair may be either female or male in distribution, but is usually scant. They tend to be somewhat taller (example: 6 ½’ as opposed to 5’10”), and exhibit less muscular development than other males, which causes males to be somewhat less coordinated than their peers. They often have slight fat distribution of a female pattern with rounded hips being the most notable. Some breast development occurs in adulthood, due to the increased sensitivity to estrogen, rather than the lack of testosterone.
This is not a predisposition to homosexuality or any other sexual deviation that is found in normal 46,XY males.
KS males are like the rest of the population. No two are the same. Some are clever, some are not. Some are musical, some are not. Many are more sensitive and perceptive, some are not. A KS male may develop a pear-shaped body. The most significant problem is infertility due to the lack of sperm production (extra X is the female chromosome).
Testosterone therapy initiated on the onset of puberty (around age 12) should promote the development of secondary male sexual characteristics and testicular growth, increase muscular development, and a more masculine appearance. Where insufficient testosterone is present, bone density may be reduced when the body fails to lay down sufficient calcium. This results in an increased risk to various bone diseases such as osteoporosis. For this reason all KS males should request bone-density scans at least every two years.
Appropriate timing of testosterone therapy is important to have a significant positive impact on the behavior and learning problems experienced by these boys, especially with regard to self-esteem and sexual problems.
Infertility is probably the most difficult aspect of the condition to address. Counseling should emphasize the distinction between sterility and sexual impotence and should be given in the context of the incidence of infertility in the normal population (about 10% of all couples experience infertility). Of course, there are alternate reproductive options such as adoption or artificial insemination by donor, and should be addressed.
When searching for information regarding KS, I came across a gentleman with KS. He had a remarkable story of his life. He was not diagnosed until he was an adult at the age of 25. I was simply dumbfounded about the research on this syndrome. Had not expected so much information. I had never looked up any information, had pretty much blocked it out of my life, but for some reason this was the first thought when this project came up.
I learned that any disability should not succumb to immediate fear. That fear should be used as a positive. You should learn as much as you can about something that comes across in your life. Fear should not dominate a decision in a negative manner. I feel that people with disabilities are not at all a disabled person, but a person that is “able” and functions with strength, willpower and faith.
With respect to my nursing practice, I would suggest that any possibility of a couple facing a disability of a child should researched information on the disability. They should seek support groups that can offer not only information regarding disabilities, but to seek all avenues during this process to learn about the disability. There are many education recourses out there to turn to, such as support groups, information availability on the internet, health care availability, and education (tutoring if needed). GP & Endocrinologist should determine the levels since some KS males can make their own testosterone to some extent. Finding your proper care begins with identifying the health care professionals who will work with you toward that goal. These patients will need to see an endocrinologist routinely. This is an effort in treating the endocrine (hormone producing) glands.