Klinefelter Syndrome Research Paper

     Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

However, there are treatment options for symptoms of the disease that would be given to anyone in the general population. Starting with the heart, high blood pressure medicine may be given to the patient to help with the hypertension, surgery may be necessary to fix the heart valves, and a heart monitor may be suggested. Since persons with Noonan Syndrome usually have growth problems, hormones may be given to aid in the process. Mental Retardation and behavioral problems are a factor and stimulation programs or individualized teaching may be an option. Because blood disorders are common it is important to stay away from aspirin. This medicine prevents blood clots from forming and that is the opposite of what Noonan Syndrome persons need. In some cases, doctors may prescribe drugs that help the blood clot. Focusing more on the males, options for testicle problems are available. Surgery for undescended testicles can be performed but is encouraged to be done before the child enters school. Just like any other person living with testicles that don’t function properly, testosterone replacements are offered (MayoClinic,

As a result, the missing chromosome can cause over 50 abnormalities that include: Anderman syndrome, Angelman syndrome, ataxia neuropathy spectrum, Bloom syndrome, breast cancer, Marfan syndrome, Prada-Willis syndrome, Tay-Sachs disease, and a lot more, depending on which gene is affected. Generally, the most common observable behaviors are: intellectual disability, seizures, psychiatric disorders, distinctive facial features and moodiness. Of particular interest is Angelman syndrome which is also a sex-linked disorder. But regardless of the source of inheritance, this disorder can be observed as any of the above listed behaviors or medical

Males that are born with Klinefelter Syndrome don't have obvious symptoms. Others have sparse body hair, enlarged breasts, and wide hips. In all the males that have klinefelter Syndrome have small testicles. In a few of the men their penis does not get to the adult size and they cannot have children but they can have a sex life, they just can’t reproduce. In some of the boys that have Klinefelter Syndrome,

Discovered in 1938 by Dr. Henry Turner, Turner’s Syndrome is where a female is born with either a x-chromosome missing, or the chromosome being altered in some way. Signs a girl has this disorder can include: puffy feet and hands at birth, short stature, low growth hormone levels, and a delay in puberty. Turner’s is rare, as it occurs in about one in every 2000 births. I was that one birth. Pediatric Endocrinologist Nancy Wright is the one who diagnosed me with it on October 11, 2014. The day was a fall day, with the crunchy leaves on the sidewalk and the doorway. That day was also a little cold. Not too cold, but not burning hot either. The ride took about an hour from my home state of Georgia, to Dr. Wright’s office in Tallahassee, Florida.

Another treatment is female hormone therapy to cause puberty improvement, but it is based on the time that the patient wants to begin such treatment. This treatment however, does require visits with a gynecologist to examine for any potential risks of "neoplasm such as gonadoblastoma and dysgerminoma"

The most common karyotype is the paternal 47,XXY which account for over three fourths of those with Klinefelter’s syndrome, but there are a small number of cases (10-20%) that have a “mosaic karyotype, 46,XY, 48,XXY or 48,XXYY.” (Maiburg, 2012). It is believed that Klinefelter’s syndrome develops after sister chromatids fail to separate correctly or separate early during meiosis I, and this is thought to be the main cause of infertility (Maiburg, 2012, pg 254). Males can inherit this from either their mother or their father, although the nondisjunction happens at different stages of meiosis, if inherited from the mother it could have happened during meiosis I or II, whereas in the father it has to happen during meiosis I (Maiburg, 2012, p 254). Just like with other genetic disorder’s age of the parents, particularly the mother, also play a sizeable role, in the development of Klinefelter’s

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.

Klinefelter syndrome is a genetic condition when a male has an extra sex chromosome, XXY instead of XY. Males usually grow without knowing that they are diagnosed with the Klinefelter’s syndrome. However, doctors can tell a male that is diagnosed with Klinefelter syndrome by testing the chromosomes of the person through blood samples. Another way, doctors can tell a male with Klinefelter syndrome by taking

Two syndromes that embody the intersex condition in which the physical appearance of an individual's genitals does not reflect the individuals gender include CAH and AIS. Congenital adrenal hyperplasia happens when an individual's genetic make up is that of a female. However, during prenatal development, which is the first most important process and healthy and normal individuals; the syndrome causes the adrenal gland to go haywire and overproduce androgens due to a genetic condition. Thus, the prenatal sexual differentiation is one that does not occur in the manner that it normally would for a female. The overproduction of these androgens is directly connected to the fact that the individual who is genetically born a female begins to grow

Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.Children with Klinefelter syndrome may have learning disabilities and delayed speech and languaage development. They tend to be quiet sensitive and unassertive but personality characteristics vary among affected individuals. Klinefelter syndrome is found in about 1 out of every 500-1000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. About half of the time the error occurs in the formation of sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased

Klinefelter's syndrome affects 1 in approximately every 600 males. Sufferers of Klinefelters have both an additional X and Y chromosome, which leads to an XXY arrangement. Sufferers will physically still appear male, although most have less male pattern body hair and under-developed sex organs. The condition often becomes apparent during early childhood, as sufferers usually have poor or later developing language skills. The temperament of males with Klinfelters’ is described as passive, calm and even shy (NHS.co.uk, 2015). This could suggest that level of aggression in males is caused more primarily by biological factors rather than their environment or social

For example, if a male with XYY has emotional problems, he can than visit a therapist or if he has excessive amounts of acne he can use regular acne treatment. If there is a problem genetically a form of gene therapy for this mutation is Testosterone replacement or, like I previously, stated testosterone gel. Even though treatment could help out in a boy or mans life, most men go their whole life without ever being diagnosed. However, a male can be tested for klinefelter’s disease with genetic analysis or a hormone test.

are more common in males because they only have one X chromosome. As a consequences male

Physical: Female patients with the disorder are generally shorter than one who does not have the disorder. They also have a stocky build, arms that turn out slightly at the elbow, a receding lower jaw, a short neck, and a hairline at the back of the neck (Genetic Science Learning Center, 2014).