What is Klinefelter Syndrome?

Klinefelter Syndrome is the name given to a variation of the 23rd pair of chromosomes, the pair that determine biological sex. Normal females have two X chromosomes, one from each parent (46,XX). Normal males have one X chromosome from the mother and one Y chromosome from the father (46,XY) . The condition which Dr. Klinefelter first described in 1942 was based entirely on the visible evidence of adult "males" who typically were tall (the average height is just over 6 feet), had small, firm testicles, a small, but erectile penis, and aspermia (no sperm are present in the ejaculate) resulting in permanent sterility.

In 1942 no chromosomal analysis was possible. Now the condition is frequently diagnosed pre- natally by amniocentesis, a common, but by no means universal test. In pre-adolescents, adolescents and adults, a conclusive diagnosis can only be made by having a chromosomal analysis done by buccal smear (a scraping of the mucus tissues of the mouth) or by a chromosomal analysis of a blood sample (which is far more accurate). As late as the 1960s, diagnosis was made by an elaborate laboratory procedure involving the distillation of a 24-hour urine specimen which was injected into immature female rats and then waiting for the rat to mature before examining her adjusted sexual development.

The chromosomal variations which result in Klinefelter Syndrome are numerous. There is always the presence of one or more extra X chromosomes which can come from either the father or the mother or both, when their sperm and eggs are produced. Thus a person with Klinefelter syndrome may have 47,XXY; 48, XXXY; 48,XXYY; 49,XXXY and Mosaics, who have some combination of any of the above plus some percentage of normal male 46,XY chromosomes. The percentages vary from individual to individual. Some people with Klinefelter have varying mosaic patterns depending on where in the body the blood sample is drawn from. Less than 1% of all people with Klinefelter syndrome are fertile. The varying conditions occur in approximately 1 out of every 500 to 1000 live "male" births.

In addition to the uniform characteristics identified by Dr. Klinefelter, there are a number of other traits which may or may not appear, making the task of identification more difficult. There appears to be a correlation between the number of extra X chromosomes and the psychological development of language. Yet, no routine chromosomal analysis is ordered for young "boys" who experience problems with language acquisition. Diagnosticians typically identify those with Klinefelter as"boys" because at birth, a penis and testicles are present and male genital appearance remains throughout life. Other psychological clues exist among some pre-adolescents with Klinefelter which may be that they are easily frustrated, have low-self esteem and are unusually stubborn. But those characteristics may exist in 46,XY boys as well, so their presence is in no way definitive.

The most obvious way of visually identifying the syndrome that Dr. Klinefelter described does not occur until adolescence. Then, 46,XY boys receive an additional surge of testosterone. The testes increase in size and the penis lengthens, large amounts of ejaculate are produced, and the upper body develops typical male structure (broad shoulders, muscular development of the upper body, narrow hips, the presence of facial and body hair, and the lowering of the voice.) Those with additional X chromosomes, do not produce the testosterone surge, and thus those normal male features do not appear or appear in reduced, varying amounts. Pubic and axillary hair do appear, but they are the result of adrenal, not testicular hormones. Also, what is known as eunuchoidal stature usually results. This is when the arm span is greater than the length of the torso. This occurs because in normal male development the release of testosterone controls the development of the long bones of the arms and legs. In its absence, the long bones do not stop growing as soon as in those with normal testosterone amounts resulting in longer arms and legs than is typically present. In adolescents with Klinefelter, the skin on the back of the hands does not develop subcutaneous fat typical of those with 46,XY. Some researchers have claimed that those with Klinefelter have little sexual interest and that they exhibit the same dis-interest as castrated males, but that is by no means true for all.

Undiagnosed, those with Klinefelter syndrome, typically show the body configuration first described by Dr. Klinefelter. In addition, at puberty, some "boys" with Klinefelter develop breast tissue as do 46,XY girls. Needless to say, the appearance of breasts and a lack of penile-testicular development can create confusion in a person who has been raised as a boy. Also, negative peer pressure usually occurs as boys are very prone to comparing testicular size in lockers rooms in school.

Today, with early prenatal diagnosis or by the rare diagnosis during childhood, those with extra X chromosomes are usually given testosterone either by mouth, by a scrotal patch, or by intramuscular injection. The least effective way of getting the extra testosterone into the body is orally. Some individual's skin is too sensitive to use the patches which must be replaced every week with a new one. The most effective way of administration is by injection, but some people hate needles. Typically the shots have to be received every two to three weeks in dosages determined through consultation with an endocrinologist.

The injection of testosterone causes the typical male body development to occur at whatever age the individual begins hormonal replacement therapy. "Zits" will probably occur as the body adjusts to the additional hormones. However, excess body fat is gradually replaced with muscle development, the shoulders broaden, and the penis and ejaculate increase, the voice deepens, and facial and body hair appear. There may also be an increase in amount and a thickening of texture of the hair on the head. The breast tissue does not disappear and can only be removed by having a mastectomy. The mastectomy is advised as the presence of this unnecessary tissue is subject to the development of breast cancer as often occurs in women. Testicular function does not change and no sperm are produced.

The downside of testosterone replacement therapy (HRT) may be an increase in aggressive behavior and will most certainly result in an atrophy of the testes, since they no longer are needed to produce testosterone and they produce no sperm. This effect is also seen in athletes who take large amounts of steroids to increase muscular development. Testosterone is a steroid and has the same effect. In addition, long-term HRT may increase the risk of cancer of the genitals and related organs. Long-term use can also result in male-pattern baldness.

However, without HRT, the individual will not produce male development naturally. In addition, with absence or low amounts of natural testosterone, osteoporosis is sure to develop. Estrogen is necessary to allow for the deposition of calcium to the bones. In males, testosterone is converted by the body to estrogen. If there are low levels of testosterone, this transformation cannot occur.

Adult individuals with Klinefelter variations often report undesirable psychological side effects from HRT. Over time, many untreated persons with Klinefelter accommodate themselves to the reality of their unique body structure and mourn the loss of their feminine identity. For those who decide to have either the mastectomy, HRT, or both, psychological counselling is highly desirable, but typically is not offered. The removal of breast tissue in males can be as traumatic as the loss of a breast is to females, yet the mastectomy is typically treated as no more than cosmetic surgery and no more significant than a haircut. Often what seems desirable to make the body conform to a typical male appearance is deeply regretted later.

Individuals with any of the varying forms of Klinefelter are intersexed at the most fundamental level, the chromosomal level, even though the person appears male and is normally raised as such. Yet many people involved in research and support of Klinefelter "boys" and "men" deny that it is an intersex condition. Parents of children who are diagnosed pre-natally want their "boys" to develop as other boys do. There appears to be a latent fear that if untreated by HRT, the child will become a homosexual automatically. It is true that many untreated adults with Klinefelter do not perceive their gender in traditionally accepted ways. Many consider themselves to be both male and female as that is what their bodies tell them.

Most general medical practitioners are not skilled in the identification of teens and adults with Klinefelter. Often these "men" have normal sex drives and seek marriage. It is not until they submit to a fertility test that Klinefelter is discovered. Yet Klinefelter is not a disease and it is not fatal. Many Klinefelter "men" marry, adopt children and make fine fathers. It is the psychological effects that cause internal and often undetected trauma. The person with Klinefelter suffers alone and unheard. In many cases, Klinefelter may be suggested by one physician, but subsequent physicians ignore this medical detail and never follow up on it. Adults with suspected Klinefelter, unless they happen to find a sympathetic and knowledgeable doctor, have to become their own advocates, incurring the wrath of unsympathetic doctors. Sometimes the path to discovery and treatment is fraught with problems that result from within the medical profession itself.

This calls for great sensitivity and knowledge on the part of pastoral care givers to persons with Klinefelter. Also, pastoral care givers need much more information than they currently have to advise parents of children who have these conditions. At many seminaries, intersex conditions are discussed, if at all, under the heading of a homosexuality. Since homosexual activity is forbidden biblically, including intersex conditions under the homosexual category means that intersexuality is also condemned. Intersexuality is not homosexuality and needs to be treated entirely separate from homosexuality. An intersexed individual may exhibit behaviors which appear to be homosexual when observed by others. Yet the individual's self-perception of gender, coupled with genetic or physical ambiguity, may not be a homosexual orientation in the traditional understanding at all.

Sensitivity and knowledge is required in dealing with all intersexed persons regardless of the form the intersex condition takes. Intersexed people have all sorts of internal struggles about who they are, why they are that way, and how they will function in society and in the church. In general, the quick assumption is often made that the intersexed person is practising sinful behavior. Judgment and condemnation quickly follow. Church communities are generally very suspicious of any "deviant" behavior. As result, those who need help and support do not receive it. The church of Jesus Christ should be the most accepting of hurting people, but more often than not does not do well at accepting those with sexual variations.

Unlike those individuals with Down Syndrome (a chromosomal variation of the 21st pair) which results in visible facial and mental characteristics, those who have variations of the 23rd pair (Klinefelter Syndrome), have physical features of genitals which are not visible to the general public. The simple fact that we live in a society where genitals are covered and hidden, exacerbates the dilemma faced by the intersexed person. Humans look at the outward appearance but God uses in internal standard of judgment. He judges the heart and I think we can safely infer that He also knows our physical make-up even better than we do.