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Klinefelter syndrome is a disorder of genetic origin. The syndrome only affects males. It is the result of a male having an additional X chromosome in most of his cells. This is contrastingly different to the normal X and Y set of chromosomes the average male has. In general, Klinefelter syndrome symptoms can vary significantly in every male with the condition.
The sex chromosomes of a male with Klinefelter syndrome are generally represented as XXY, although it is possible to have more than one extra X chromosome. The more severe the genetic disorder is, the more symptoms an individual may experience. In many cases, people with just one additional chromosome are not be medically diagnosed with the syndrome until adolescence. This may be due to the fact that symptoms of this syndrome are not usually seen until that time.
Tallness, a rounded body type and being overweight can be some mild symptoms. Commonly, adolescent boys with this syndrome are often a lot taller than other boys their age. In addition, a person with this condition may have wider hips and shoulders that are more narrow than the average man. Underdeveloped or particularly small muscles may also be apparent. Many males will have a thinness of hair, which may result in sparse facial and body hair.
Symptoms can also include low testosterone levels. This may cause a man to have uncommonly small testes, that may be much firmer than normal. Particularly low levels of testosterone could also cause male breasts to significantly enlarge. Gynecomastia is the medical name of this symptom. The inability to produce sperm can be another symptom and this symptom can prompt male infertility.
Some individuals with Klinefelter syndrome may have a language impairment. This may cause delayed talking in a child with this disorder. In addition, he or she may have difficulty reading and writing. Often, individuals with very pronounced symptoms may have socialization problems.
Klinefelter syndrome symptoms may be treated with testosterone therapy. Increasing the levels of testosterone may alleviate a great number of symptoms of this genetic disorder. For instance, the increase may further develop the muscles and improve sparse facial hair. It may also strengthen the bones and lessen the chances of developing a condition like osteoporosis. Although, anyone can develop osteoporosis, a male with weakened bones due to this syndrome may be more at risk.
Individuals with this syndrome may be treated with other various kinds of therapy as well. Psychological therapy may be beneficial in learning how to deal with the emotional affects of having this disorder. In addition, speech therapy may also be prescribed. This treatment may be used to assist individuals with delayed language development.
To say Klinefelter's Syndrome is not genetic or doesn't play a role in learning is false. Genetics determine building body structures, so faulty or underdeveloped testicles are in part caused by genetics.
Furthermore, low testosterone plays a role in one's energy levels, which can translate to situations where one is too tired to complete homework, go to a library, etc, and tend to get worse grades or learn less because they are tired or feel overworked. I'm not saying those with Klinefelter's are any less intelligent, just that they may suffer in educational environments due to their physical disadvantages.
These are the symptoms of Klinefelter's syndrome I had in 1976, I still had some of them 25 years later:
Very thin build, no musculature, no facial and sparse body hair, female pattern pubic hair, good penile and scrotal development, small firm testes, (no breast tissue was palpable), my span was greater than my height, I was 5'8" tall and I had broader hips than chest. My complexion was very pale, anemic almost.
The hidden symptoms revealed by blood tests were elevated LH (Luteinizing Hormone) and FSH (Follicle Stimulating Hormone) and low normal testosterone. Normal testosterone levels are 270 mg/dl to 1100 ng/dl (that's nanograms to the decilitre). American standard measurements still used today in America and not
used where I come from.
By mid 1976 I had testicular failure, under 270 mg/dl testosterone.
You may be interested to know that testicular volume by age 16 ought to be somewhere between 15 and 25mls volume, my testes at age 16 were 1.0mls volume bilaterally for each.
At that time I had my ejaculate tested and was found to have Ogliospermia, which means I had no sperm at all.
I began testosterone therapy in October 1976 and have not ceased since.
According to the medical profession, Klinefelter's syndrome is a disease some XXY's etc. can get. If Klinefelter's syndrome was of genetic origin, all XXY's etc would get Klinefelter's syndrome and the interchange of XXY and Klinefelter's syndrome would be firmly established. That not all XXY's etc get Klinefelter's syndrome indicates it is not of genetic origin, logically speaking.
One can also have additional Y sex chromosomes and have Klinefelter's syndrome and no Y chromosome. Thus persons who are 46XX Male are said to have Klinefelter's syndrome as are persons who are 48XXYY. Generally speaking the more additional sex chromosomes the more pronounced the symptoms. But to say 47XXY's are less affected would be an error. Usually the least affected are
the mosaics who have some cells that are have the usual 46XY karyotype and other cells that have the unusual 47XXY karyotype, expressed XY/XXY. Sometimes persons who are mosaics have their karyotype expressed as a percentage, such as XY 90 percent, XXY 10 percent.
Klinefelter's syndrome itself is caused by Seminiferous Tubule Dysgenesis. Seminiferous Tubules are the structures in the testes that make sperm. The Dysgenesis part refers to the malformation of those structures which in turn retard the growth of the Leydig cells, also in the testes, which make testosterone.
The reason XXY males have very small testes is because their Leydig cells are physically prevented from expanding in puberty. The smallness of the testes is referred to as testicular atrophy. Atrophy means "shrinkage," effectively suggesting in early puberty there is some testicular growth, which is not sustained.
Klinefelter's syndrome is therefore a form of male Hypogonadism. "Hypo," means under, and refers to the under production of testosterone. All men can suffer from hypogonadism but Klinefelter's syndrome is a unique form of hypogonadism, unique to XXY, etc. males.
Learning problems are not associated with any form of hypogonadism. Although males are said to "think with their balls" it is, in fact, not true. There are no learning structures in the testes, those structures are found in the brain as in every other human being.
The original studies by Klinefelter et. al. had nothing to do with educational issues, indeed the intelligence and social status of the nine men examined for Dr Klinefelter's report were not mentioned at all. These men were attending a Hypogonadism Clinic not a remedial education class.
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