Kleinfelter's Syndrome Research Paper

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In 1942, a doctor named Harry Kleinfelter, working in a general hospital in Boston, Massachusetts, documented abnormal symptoms in males that had not been cited before. Dr. Kleinfelter was treating males suffering from undersized testicles, gynecomastia, incomplete puberty, reduced body and facial hair, as well as other sexual developmental issues such as infertility, hypospadias, and cryptorchidism. The condition was named Kleinfelter’s Syndrome, though what brought about these symptoms was still unknown. It was not until eight years later that the technology became available to unlock the secrets behind the disorder that has since been found to be one of the most common genetic disorder in males.
With the invention of the microscope in 1674
…show more content…
All symptomatic males tested had a forty-seventh chromosome in their cells. Though this may seem like a minimal change beyond the norm, these are the instructions for how the body should develop and if anything is thrown off balance it could result in extreme anomalies. During a process called meiosis, a type of cell division, a sperm or egg may experience a critical error called nondisjunction where the sex chromosomes do not split correctly. When nondisjunction occurs, the sperm or egg will have an extra chromosome which will then be duplicated if fertilization by the flawed sperm or egg is successful. The embryo then begins copying, dividing, and creating new cells in mass quantities based upon this flawed …show more content…
There are, however, variants to Kleinfelter’s where a second extra chromosome is involved (48XXXY) or a third (49XXXXY). These variants are extremely rare and have much more severe symptoms. The common form of the disorder (47XXY) can often be treated though it is ultimately incurable. The most widely used therapeutic treatment is intramuscular injections of testosterone which aid in sexual hormone function. This treatment will have varying effects with each individual, but a majority of patients benefit from it. Testosterone injections, even if not diagnosed until adulthood, can increase strength, libido, body and facial hair, and improve moods and confidence levels. It will not, however, affect testicular size, decrease breast tissue development, or reverse

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