Klinefelter Syndrome Research Papers

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with

Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting only males. It mostly affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the sex hormone testosterone. Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome affect every person differently, and not everyone with it develops the same signs and symptoms. Klinefelter syndrome often isn't diagnosed until adulthood. Most men with Klinefelter syndrome produce little or no sperm. But assisted reproductive procedures

Surgery to correct this condition is one of the most common that is performed in the United States. Additionally, women are three times more likely to develop the syndrome than men.

It can be misdiagnosed because the symptoms can be similar to depression. When in fact it can also be a genetic defect, such as a dysfunctional pituitary gland that produces the luteinizing hormone that signals your testicles to get to work. The use of

The X and Y chromosomes are what determine the gender of a person. Depending on whether the sperm that impregnates a female carries an X or Y will determine the gender of the offspring. A Y chromosome will cause the offspring to be male while if the offspring has an X it will be female. Some offspring will be born with more X’s or Y’s often know as klinefelter syndrome, XXXY syndrome, 49,XXXXY syndrome, XXX syndrome, and tetrasomy X. Males with klinefelter syndrome, XXXY syndrome, and 49, XXXXY syndrome are still male though many suffer from shorter stature, enlarged breasts, hypogonadism, cryptorchidism, and deficient growth hormones. Women who have XXX syndrome and tetrasomy X are still female, but women with XXX syndrome will

“[Twenty-five] Important Klinefelter Syndrome Statistics. Klinefelter syndrome [KS] is a genetic chromosomal condition that affects only men.” (healthsearch funding.org.) Klinefelter Syndrome causes changes to their cognitive and physical development.The Klinefelter syndrome affects a lot of sex characteristics the origin of this syndromes discovery was in 1442 by a doctor named Harry Klinefelter and his co-workers when they first described the features that is known as Klinefelter Syndrome. Klinefelter syndromes symptoms are diagnosed according to what causes Klinefelter syndrome. The syndrome is not inherited it is a random mutation. Doctors after diagnosis, will prescribe/suggest treatment that will not get rid of the syndrome. Klinefelter syndrome is generally found in any age of the male sex.

Pseudovaginal Perineoscrotal Hypospadias, abbreviated as PPSH, is an extremely rare inherited abnormality that only affects males. It is also known as 5-alpha reductase deficiency and is a disorder of sex development. Affected males are born with the normal XY and a full set of 46 chromosomes, however, are born appearing physically female due to their abnormal genitalia. In several cases, these males have been mistaken to be female and and raised following that gender norm. Upon reaching puberty, these males began to develop masculine features like a deepening voice and increase in muscle instead of breasts developing and menstruation beginning. Afterward, it was realized that these affected males were not females as the penis begins to

My brother Jett Balanay was diagnosed with Klinefelter Syndrome. Klinefelter Syndrome is a genetic condition in which a male is born with an extra X chromosome. Instead of the normal forty-six X,Y chromosome of a male, Jett has forty-seven chromosomes which are X,X and Y. In my previous research I provided information about Klinefelter Syndrome, the signs and symptoms, the history of Klinefelter Syndrome, and a list of health care providers that are available to help treat males with Klinefelter Syndrome. This paper will provide detailed information about the three major facets when addressing treatment for males with Klinefelter Syndrome. The three major facets are hypogonadism “diminished hormonal or reproductive functioning in the testes or the ovaries,” gynecomastia “abnormal enlargement of the breast in a male,” and psychosocial problems “of or relating to the interaction between social and psychological factors” (Dictionary, 2015)

Klinefelter syndrome is a common genetic condition affecting men that causes various complications to the male body and brain. Caused by a variation during meiosis, this then grows to a large complication through a patient’s life. The symptoms of this disorder are varied and hard to diagnose, leading to many cases left undiagnosed. Klinefelter syndrome is a genetic disorder caused by an additional x chromosome in men, affecting their sexual development and leading to learning disabilities.

These treatments are more effective if the symptoms of Klinefelter syndrome are diagnosed early. Testosterone therapy is available in patches, gels, and injections to deepen the voice, improve muscle mass, and improve the growth of facial and pubic hair of individuals with Klinefelter syndrome. To counter infertility in individuals with the condition, in vitro fertilization methods such as testicular sperm extraction with intracytoplasmic sperm injection is available. During this procedure, a surgeon would take sperm from the individual’s testes and places a sperm in an egg on a laboratory dish. Depending on the individual, a doctor may recommend mastectomy, a procedure to reduce or remove enlarged breasts of Klinefelter syndrome patients. In addition, physiotherapists can help patients with Klinefelter syndrome improve muscle tone, strengthen bones, and improve their motor and coordination skills. An individualized education plan (IEP) can also be created in elementary and secondary schools to define and help students with Klinefelter syndrome reach academic and social goals at

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

Visualize a world where you can be several feet smaller than an average person. This is what Meier Gorlin Syndrome, or Primordial Dwarfism, is like. The victims of this rare genetic disorder develop many malformations and dysfunctional parts in their body while in the womb of their mother. The child diagnosed with Meier Gorlin Syndrome inherited this disease by two parents both carrying a mutated chromosome 21. The recessive genes in the parents came together and effected the offspring. There are several symptoms that include a short stature, or being well below the average height, small chin, head, and mouth, missing or undeveloped patellas, or kneecaps, low ears, full lips, and problems in the urinary tract. (kidneys, ureters, and bladder.)

Turner syndrome is a chromosomal disorder that affects development in females. This condition is caused by a missing or incomplete X chromosome. In 1938, Henry Turner, an American endocrinologist, described seven women with short stature, lack of sexual development, neck webbing (extra skin on neck), low hairline, and cubitus valgus (arms that turn out at the elbow). Years earlier, Otto Ullrich, a German geneticist, independently described an 8-year-old girl with short stature, swelling of the hands and feet, neck webbing, and several other features now associated with Turner syndrome. In the 1940s, endocrine and pathology studies confirmed that the sexual immaturity seen in these patients was due to ovarian failure. In 1954, Paul Polani and his colleagues provided the first link between Turner syndrome and sex chromosome abnormality when they reported three patients with this condition who were sex chromatin negative. With the advances in chromosomal analysis, it was revealed that Turner syndrome was associated with the presence of a single X chromosome. Other names used to refer to this disorder include TS, monosomy X, and Ullrich-Turner syndrome.

It was found in recents studies that KS is most commonly inherited maternally. Due to the regular levels of aneuploid sperm men produce, all men in the general public have a risk of producing an aneuploid child, therefore producing a child with KS. Knowing this, a man does not necessarily have to have KS to still produce a child with Klinefelter syndrome however it is more common for a child to inherit Klinefelter syndrome if his father also has KS.