Klinefelter's Syndrome Research Paper

Improved Essays
Klinefelter Syndrome
Klinefelter Syndrome is a condition that affects sex chromosomes in males only. It is one of the most common genetic disorders. KS was named after Dr. Harry Klinefelter who was the first person to report it’s symptoms in 1942.(7) Harry was a Endocrinologist from Baltimore working at the Massachusetts General Hospital.
Males with Klinefelter’s present with a variation of symptoms from babies to adults. Some symptoms are noticeable and some are unnoticeable. It is common that people with Klinefelter’s don’t get diagnosed until their teens or adults. This is because most symptoms can’t be seen until later in life when a male starts to develop more. It is rare for a baby to present with symptoms. They can start off by having
…show more content…
It results when a boy is born with at least one or more extra X chromosomes. More than one extra is very rare.(3) The chromosomal change happens randomly during the process called Meiosis, the formation of new cells. The error is called a nondisjunction. The egg or sperm gains an extra copy of the X chromosome. If a male has more than one extra X chromosome, health problems can be at risk.(4) Half of the time, the extra X chromosome comes from the dad, not the mom.(5)
Scientists and researchers at Columbia University Medical Center are currently working on a new assessment tool to help pediatricians detect the physical traits of Klinefelter Syndrome. The tool could help pave the way for more inventions that prevent and treat physical, psychological, social, and cognitive symptoms and problems caused by Klinefelter’s.(5) Researchers everywhere are trying to find ways to reduce symptoms and make the life of people with Klinefelter’s better.
Klinefelter Syndrome does not affect a person’s lifespan. Every male diagnosed with Klinefelter’s is expected to grow up and live a perfectly normal life. Lifespan may only be affected due to complications caused by the disorder.
Even though Klinefelter’s is a very common disease, it goes undiagnosed in many males. Not very many people know about this disease. Other names for Klinefelter’s Syndrome include XXY Syndrome and XXY

Related Documents

  • Great Essays

    The sex chromosomes are typical of that of a male, though there would be a spontaneous miscarriage, as monosomy 21 is not viable, resulting in no phenotype. d) 46 chromosomes with one less chromosome 14, a Robesonian translocation between each q arm of chromosome 14 and 21 and a X and Y sex chromosome. The resulting phenotype would be a male with Downs Syndrome, due to the extra q arm of chromosome 21. e) 46 chromosomes with one less chromosome 21, a Robesonian translocation between each q arm of chromosome 14 and 21 and a X and Y sex chromosome. The resulting phenotype would have been male, though since trisomy 14 is not viable (due to the extra q arm of chromosome 14), there would be no…

    • 699 Words
    • 3 Pages
    Great Essays
  • Improved Essays

    Maple Syrup Disease Essay

    • 470 Words
    • 2 Pages

    Lebo et al. (2000) stated that “Both purported parents were tested, and neither carries the gene deletion. Polymorphic simple-sequence repeat analyses at 15 loci on chromosome 1 and at 16 loci on other chromosomes confirmed parentage and revealed that a de novo mutation prior to maternal meiosis I, followed by nondisjunction in maternal meiosis II, resulted in an oocyte with two copies of the de novo (an alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell) mutant allele.” Therefore during the fertilization by a sperm that did not carry a paternal chromosome 1, the child inherited two mutant MSUD2 alleles on two maternal number 1 chromosomes instead. If both parents carry the MSUD gene, each of their children has a 1 in 4 chance of getting the disorder, and a 1 in 2 chance of being a…

    • 470 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    surgeon can make a larger cut. Sometimes doctors can use special techniques that require smaller cuts for these biopsies. Once the lymph node is removed, a doctor will check to see if it has one of the types of tissue that is associated with Castleman’s disease, hyaline-vascular or plasma cell (Castleman's Disease). Affected Population Castleman’s disease is a rare disorder that can affect the male and female population equally.…

    • 603 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    There is always genetic testing that parents can do to see what their chances are of having the mutation. As said from the national organization of rare diseases. “Reportedly, the…

    • 1043 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    Krabbe disease Brief description of the disorder: Krabbe disease, a rare genetic degenerative disorder of the central and peripheral nervous systems. It is initiated from a lack of galactocerebrosidase, a vital enzyme for myelin metabolism. This disease is one of a group of genetic disorders called the leukodystrophies, which affects the growth of development of the myelin sheath, the fatty substance that insulates and protects the nerves in the brain and spinal cord. The myelin sheath continues to develop after birth, with the growth rate peaking before 18 months of age. The myelin sheath is completely developed when a person is about 20 years old.…

    • 446 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    The inheritance of DMD is usually linked to the mother, but there are many occurrences in which a spontaneous abnormality occurs in the X-chromosome during pregnancy, causing an alteration within the gene. One in…

    • 1004 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    Integumentary Disease: Phenylketonuria Skin diseases vary from case to case, whether it is a common case or a rare case, like phenylketonuria. Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a negative body affliction causing inability to metabolize the amino acid phenylalanine. The disease can cause Mental health issues as well as others because of the excess of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, called tyrosine, it can create other enzyme routes that build up in the bloodstream and in body tissue. This is EXTREMLY harmful to both the body and the development of it.…

    • 404 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    The “invisible bug” infestations are clinically known as the Ekbom Syndrome. Ekbom’s Syndrome is a mental disorder that a person believes that there is bugs in their skin, clothes and surroundings, which is why they call it the “invisible bug.” People with Ekbom Syndrome often develop purplish-blue, rounded and raw cuts from scratching because of the thought of bugs in their body. There is no actual founder of this disease, but it was named after Karl A. Ekbom, the Swedish neurologist who provided a definitive description of the condition in 1938. Some doctors describe this as a “rare” disorder.…

    • 515 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Menkes disorder is diagnosed when the baby turns 2-3 months old when the symptoms are visible. Up until this point, the babies appear healthy with normal babbling, smiling, and development. Upon the onset of symptoms, the baby stops developing further and may start showing signs of losing previously developed skills. This developmental abnormality becomes more obvious by 5-6 months old. Testing includes blood analysis, skin biopsy, and microscopic examination of hair.…

    • 733 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Klinefelter Syndrome is a genetic disorder of males caused by the attainment of an extra X chromosome at conception. It occurs in one in every 500-1000 male births but the rate is up to 20 times higher in newborns. It was first discovered in 1942 by a doctor named Klinefelter who published case reports of nine men who had breast enlargement, a lack of facial and body hair, smaller than average testicles and an inability to produce sperm. There are medical researchers that realized the role of the extra X chromosome and confirmed it to be the causative factor. Treatments for males with klinefelter is Testosterone replacement therapy-…

    • 415 Words
    • 2 Pages
    Improved Essays
  • Great Essays

    Turner Syndrome Diary

    • 825 Words
    • 4 Pages

    In fact, I ask myself these questions every day when I wake up. Every day, I struggle knowing I have a genetic disorder; Turner Syndrome. Turner Syndrome, or TS, is a genetic, chromosomal disorder in which a female is born with only one X chromosome (the 23rd pair). This affects the development in women (the disease can only occur in women). The most common way a female can get TS is by monosomy, which means an X chromosome is completely…

    • 825 Words
    • 4 Pages
    Great Essays
  • Improved Essays

    Turner Syndrome Disease

    • 389 Words
    • 2 Pages

    Turner syndrome is a genetic condition caused by the absence of all or parts of the second sex chromosome. This condition only affects women and girls because the X-chromosome is missing or partially missing or rearranged. X-chromosome monosomy, X-chromosome mosaicism, and X-chromosome defects are common causes of the absence or alterations of the X-chromosome. Monosomy X occurs in about half of the girls with Turner syndrome. This means that each cell in each of their bodies has only one copy of the X chromosome instead of two sex chromosomes.…

    • 389 Words
    • 2 Pages
    Improved Essays
  • Great Essays

    During offspring, parents pass on two sets of chromosomes each. A mother always passes on an X- chromosome, letting the father pass on a Y- chromosome, deciding the gender of the child. The flawed gene passed on by the mother does not have to date back to ancestral connections, either because the family might have not known about the disease and never had a son that inherited it, or the child had a new genetic mutation in the mother’s eggs ("Diseases - DMD”). Therefore, the reason why young men are often diagnosed with this disease is according to their…

    • 1691 Words
    • 7 Pages
    Great Essays
  • Great Essays

    Trauma In Serial Killers

    • 1637 Words
    • 7 Pages

    For normal people, there are 46 chromosomes with either an XY or XX for male or female (Ioana, 2013). One of these genes that predisposes people to criminal behavior is an anomaly in the sex chromosomes making the person have an extra X chromosome leading the person to have 47 chromosomes with xxy this anomaly is referred to as Klinefelter's syndrome (Ioana, 2013). Research has established that Klinefelter syndrome is present among criminals five to ten times more than the general population. There is also another anomaly in the sex chromosomes that lead to a person to have 47 chromosomes with a xyy which is known as the crime chromosome (Ioana, 2013).…

    • 1637 Words
    • 7 Pages
    Great Essays
  • Improved Essays

    ADHD Treatments

    • 467 Words
    • 2 Pages

    What are the alternative treatments for ADHD? Judy Johnson BMC SSE0050 E1 Introduction This paper presents information related to the alternative treatments for ADHD. First, what is ADHD is presented. Second, signs and symptoms are presented.…

    • 467 Words
    • 2 Pages
    Improved Essays