(Written by guest blogger Cee Mac.)
Klinefelter’s syndrome (XXY syndrome) is a disorder that appears in males after they hit puberty (Berk, 2004). It is a defect in the gonads, caused by an extra X chromosome in at least one cell line (Como, 2009). The most frequent characteristics of this disorder are small firm testes, long legs, gynecomastia, poor social adaptation, subnormal intelligence, chronic pulmonary disease, and varicose veins (Queipo, Aguirre, Nieto, Peña, Palma, Olvera, et al., 2008). The greater the number of additional X chromosomes, the more severe the abnormalities (Como, 2009). Almost all men with this abnormality will be infertile due to a decrease in sperm count (Wattendorf, & Muenke, 2005).
Queipo et al., states that every one in 667 males have a form of this disorder, but only one-quarter of them are diagnosed (2008). The remainder of males with this syndrome go undiagnosed due to the varying degrees of severity of the disorder. The diagnosis for Klinefelter’s Syndrome is determined by karyotyping in-vitro cultured G-banded white blood cells suspended in metaphase, however this procedure requires extensive labor and can only be performed in specialized laboratories (Queipo et. all, 2008). Late or incomplete puberty during adolescence is a sign for further examination to determine if the syndrome is present in the suspected male (Wattendorf, & Muenke, 2005).
According to Herlihy & Halliday, the occurrence of this syndrome is increasing and may be due to adults having children later in life (2008). Herlihy & Halliday also states the this syndrome can be more effectively treated if found at an earlier age then puberty, however they claim that the best age to be diagnosed is still unknown due to the lack of research surrounding this issue (2008). Until further research is done, the average age of diagnosis will remain undetermined.
Difficulties in social interaction is one characteristic that males with this syndrome typically display. Van Rijn, Swaab, Aleman, & Kahnstate that one study shows that males with this disorder easily become distressed in social situations, and can also display traits similar to that of autism (2008). A percentage of males from the study did not engage in specific social behavior regularly, and that syndrome may serve as a model for the link between the X-chromosome and social behavior dysfunction and autism-like behavior (Van Rijn, Swaab, Aleman, & Kahn, 2008).
Due to testosterone deficiency, the male body features may be feminized during puberty (Wattendorf, & Muenke, 2005). According to (Wattendorf, & Muenke, 2005), this deficiency can result in decreased muscle tone, bone, and mineral density, a loss of libido, an increased risk of thromboembolism (an air clot in the body), and an increased risk of death form diabetic and cardiac complications. This syndrome also has an increased risk of metabolic syndrome, tumors, and possibly breast cancer (Queipo et. all, 2008), therefore, monthly self breast exams should be encouraged.
Once the person is diagnosed with Klinefelter’s syndrome, a comprehensive evaluation is performed. If diagnosed in infancy or childhood, this may include developmental evaluation such as infant stimulation programs, speech therapy, or physical therapy (Wattendorf, & Muenke, 2005). In adult males, this syndrome is treated with testosterone supplementation therapy (Current Medical Research, 2006).
As soon as there is direct evidence of a testosterone deficiency, androgen therapy should be started (Wattendorf, & Muenke, 2005). This can take place when the person begins middle school, or when the male turns 14 years old (Current Medical Research, 2006). There is current research available that men with this syndrome may be able to father children.
According to (Fertility Weekly, 2006), males may be able to undergo fertility treatment through the use of intracytoplasmic sperm injection (ICSI) with sperm obtained by testicular sperm extraction (TESE). 42 men were treated by this procedure, and 18 of the cases resulted in a clinical pregnancy, and 21 babies have been born (Fertility Weekly, 2006). So far, this treatment seems successful, and may be an alternative to those males who wish to father children of their own, but may be unable to do so due to this syndrome.
Adolescents who experience puberty late, or incompletely, should be tested for this syndrome because the earlier it is treated, the higher the success rate of the treatment. Extensive counseling should be encouraged for those males who wish to undergo fertility treatment in order to have children. Even though the treatment may be successful, there is an increased risk of chromosomal abnormalities in their children.
Because there is an increased risk for breast cancer, breast self-exams should be performed monthly. Confidence and self esteem can be improved with hormone therapy to increase libido and energy. This should be encouraged to increase the person’s overall sense of well being. Counseling should be encouraged to those with this syndrome who are having difficulties dealing with the reality of this abnormality and being sterile.
More research needs to be performed on this topic. There are a decent amount of articles on this syndrome, however more articles on those actually going through this syndrome would be useful to others with similar difficulties. Research on the appropriate age to be tested and diagnosed for this disorder should be performed.
Due to the increasing number of males with this syndrome, perhaps diagnosing at an earlier age than puberty would decrease the amount of those with this disorder. The earlier in age that this is diagnosed, the better the treatment outcomes. Perhaps if this can be diagnosed in infancy, the problem could be addressed head on, and the success rate will increase. The ultimate goal would be to prevent this syndrome all together, so that no male would have to deal with this abnormality and lead a healthy life.
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