Summarize report in Klinefelter\'s Syndrome PDF

Title Summarize report in Klinefelter\'s Syndrome
Author Ria Almuete
Course Medical Technology
Institution Our Lady of Fatima University
Pages 8
File Size 238 KB
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Summary

Summarize report in Klinefelter's Syndrome it's meaning and classification with examples for studying or review notes...


Description

Cases Klinefelters Syndrome Individuals who inherit more than one X chromosome but still possess a Y chromosome are male known as Klinefelter syndrome (XXY). This is one of the most common chromosomal abnormalities (1 in 1,000) births leading to increased height some feminine body contours little facial and body hair and lower testosterone levels. Though most are fertile and have normal mental abilities. It should also be noted that people with Klinefelter syndrome are not more inclined to be homosexual, although a small number (such as those listed) may be transgendered.

1. Lili Elbe Lili Elbe (28 December 1882 – 13 September 1931) was an intersex person and one of the first identifiable] recipients of sex reassignment surgery. Elbe was born in Denmark as Einar Mogens Wegener and was a successful artist under that name. Elbe started dressing in women's clothes one day filling in for Gottlieb's absentee model; she was asked to wear stockings and heels so her legs could substitute for those of her model. Elbe felt surprisingly comfortable in the clothing. Over time, Gottlieb became famous for her paintings of beautiful women with haunting almond-shaped eyes dressed in chic fashions. In approximately 1913, the unsuspecting public was shocked to discover that the model who had inspired Gottlieb's depictions of petite femmes fatales was in fact Elbe. In the 1920s and 1930s Elbe regularly presented as a woman, attending various festivities and entertained guests in her house. One of the things she liked to do was to disappear, wearing her modeling fashions into the streets of Paris in the throngs of revelers during the Carnival. Only her closest friends knew that she had transitioned and to others, Elbe was introduced by Gottlieb as Elbe's sister when she was dressed in female attire. The fifth operation was to transplant a uterus and was intended to allow Elbe, then nearing the age of 50, to become a mother. She soon after died of transplant rejection.

2. Véronique Françoise Caroline Renard In 1982, at the age of 17, Renard transitioned to being a trans woman with the support of her family, friends and people in her hometown. Renard's mother renamed her Véronique. In 1983, Renard was

granted permission by a court in Utrecht to change her legal name, she added her second name Françoise (after her best friend), and third name Caroline (after Caroline Cossey, a British model who appeared in the 1981 James Bond-film For Your Eyes Only with Roger Moore). Initially unaware of the phenomenon of transsexualism and gender reassignment surgery (GRS), Renard conveyed in her 2007 memoir that the international media attention around Cossey in 1982 regarding her transition helped Renard to self-diagnose her own gender dysphoria. The day after reading about Cossey in a Dutch tabloid, Renard consulted her doctor and shortly after, the Amsterdam Gender Team. Renard was diagnosed with Klinefelter's syndrome, having 47 chromosones (XXY). Females have an XX chromosomal makeup, and males an XY. Renard started hormone replacement therapy soon after. She completed her physical transition 18 months later in 1984. Renard was one of the first 150 persons to receive contemporary GRS in the Netherlands. Louis Gooren, a professor of endocrinology at the special chair of transsexology at the Free University Amsterdam, guided her through the process. The medical team involved in her GRS included plastic surgeons Auke de Boer and J. Joris Hage as well as gynecologists C. Jager and A. Drogendijk. In 1984, at age 18, Renard learned from the Amsterdam Gender Team that she was most likely the youngest person in the world to receive complete contemporary GRS. In October 1984, the Dutch Government granted Renard permission to have her gender corrected on her birth certificate. Renard is most likely the first post-operativetrans woman in the world to be legally recognized as a female. In the early 1980s, Louis Gooren, a professor, put pressure on the Dutch parliament to discuss the option of legal recognition of post-operative transsexuals in the Netherlands. The Netherlands became the first country in the world to legally and fully recognise post-operative transsexuals by accepting a new law in 1986. Fearing rejection and discrimination, Renard never volunteered to mention her gender reassignment to friends, colleagues and lovers.

3. Caroline Cossey Caroline "Tula" Cossey (born 31 August 1954) is an English model. She is one of the world's most well known trans women, having appeared in a James Bond film and been the first to pose for Playboy. Since being outed by British tabloid News of the World, Cossey has fought for her right to legally marry and to be recognised by the law as a woman.

Early life and Transition Cossey was born Barry Kenneth Cossey in Brooke, Norfolk, and raised as male. Through puberty, Cossey was distinctly feminine in appearance due to a variant of an intersex condition known

as Klinefelter's syndrome, where, instead of having the XY male chromosome pattern, she possesses the genotype XXXY (people with Klinefelter's syndrome usually have XXY). In Cossey's autobiography My Story, she describes an unhappy childhood, where she suffered confusing feelings and bullying by peers due to her femininity Growing up, Cossey's closest companion was her sister, Pam, with whom she played dress up in their mother's clothes. Cossey left formal schooling when she was fifteen, and found work in a clothing store and as a butcher's apprentice. At sixteen she moved to London and worked at a variety of low-wage jobs. Cossey started transitioning after befriending a post-operative trans woman By 17, Cossey was receiving hormone therapy, living full-time in a female gender role and had begun a career as a showgirl at a London nightclub. Despite initial shock, Cossey's parents were eventually supportive. f ollowing breast augmentation surgery, Cossey worked as a showgirl in Paris and as a topless dancer in Rome to save up for sex reassignment surgery (SRS). After years of hormonal and psychological treatment, and legally changing her name, Cossey had her final surgery on 31 December 1974 at Charing Cross Hospital, London.

1 Lili Elbe .The artist Lili Elbe was thought to have had this disorder. He married Gerda Wegener, one of the most influential Art Deco artists of the early twentieth century, and crossdressed for her when she needed a female model. He actually became Gerda’s favourite model and the 1920’s small breasted feminine ideal may have been influenced by Lili’s figure. Lili then underwent sex reassignment surgery and it was under one of these surgical procedures that she died in 1931. This story is now the focus of a major movie where Lili is played by Nicole Kidman.

2 Véronique Françoise Caroline Renard The Dutch actress Véronique Françoise Caroline Renard was diagnosed with Klinefelter’s syndrome and in 1982, at the age of 17, transitioned from male to female. She added her third name after one of her friend Caroline Cossey, who was also diagnosed with the condition.

3. Caroline Cossey Some people have inherited more than two X chromosomes along with the Y chromosome resulting in karyotypes such as XXXY, which are still considered forms of Klinefelter syndrome. This is the chromosomal arrangement of Caroline Cossey, also known as Tula, who appeared in the James Bond movie “The Spy who Loved Me”. Though raised as a boy, she opted to live as a girl at a young age, undergoing sex-assignment surgery and subsequently becoming a wellknown model and actress.

Klinefelter Syndrome Klinefelter's syndrome, also known as 47,XXY or XXY is the set of symptoms resulting from a genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype or an additional Y chromosome to a standard human female, for a total of 47 chromosomes rather than the 46 found in genetically typical humans.

As the resulting individual possesses at least one Y chromosome, they are typically considered genetically male, although the phenotype can be male, female or intersex.

This chromosomal condition affects male physical and cognitive development. Its signs and symptoms vary among affected individuals. Affected individuals typically have small testes that do not produce as much testosterone as usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility). Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis). Older children and adults with Klinefelter syndrome tend to be taller than their peers. Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in. A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives. Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help.

References: http://en.wikipedia.org/wiki/Caroline_Cossey http://en.wikipedia.org/wiki/Lili_Elbe http://en.wikipedia.org/wiki/Veronique_Renard http://en.wikipedia.org/wiki/Klinefelter_syndrome

http://powerofthegene.com/joomla/index.php/chromosomes/klinefelters-syndrome http://www.nlm.nih.gov/medlineplus/klinefelterssyndrome.html

Signs and Symptoms There signs and symptoms of this syndrome are listed below. For babies or children They have a weak muscle and that’s why they don’t have the strength normal and healthy children usually have. While they get older, they actually get taller than normal people. They have incomplete muscles that usually support in controlling their body in creating different movements. Puberty In this stage, the physical traits can easily be seen by people. They cannot produce more testosterone as normal men can. They have more hair in their body and they have broader hips. During the puberty level, these males are having bigger breast, low energy level, and weaker bones. In comparing to normal men, they really have big difference primarily in their physical appearance. Adulthood Males who are in the stage of adulthood, they have a youthful appearance, lanky, and they have a well-rounded type of body along with several degree of Gynecomastia. Gynecomastia is the condition wherein there is an increased number of tissues in the breast. There are also times that they are infertile and they need advanced reproductive assistance to avoid some problems.

Treatment Options For the patients who are suffering from Klinefelter Syndrome, there are safe and effective treatments below that they can follow. But, they should consult first in their doctor if they can undergo from this treatment. Educational Treatment Teachers who have this kind of students are giving them some methods that can help them in doing various activities inside their classroom. The methods they give to these students are just some manageable steps.

Medical Medications TRT is the best choice for male individuals who have this kind of health issue. It actually makes their testosterone levels higher. Therapeutic Selections The therapeutic selections that can be chosen by patients are occupational, physical, mental health, speech, family therapist, and behavioral. These also lessen that language issues, and it gives them more self-confidence....


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