Symptoms And Symptoms Of Klinefelter Syndrome

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

Gonadal Dysgenesis, also known as turner syndrome, is a rare medical disorder that affects 1 in every 2,500 girls (kidshealth). It is a chromosomal that occurs when one of the two X chromosomes found in females are missing or is incomplete. This condition only affects females. Although researches don’t know exactly what cause turner syndrome, they do know that it’s a problem with a female chromosome. Females who are born with Tuner Syndrome are short in height and effects their sexual development and the ability to have children. Other features of this condition that can vary among women who have turner syndrome include: extra skin on the neck, heart defects, puffiness or swelling on the hands and feet, and/or kidney failure.

Kinefelter syndrome is a genetic condition that occurs in men as a result of an extra chromosome. The most common symptom is infertility. Humans have 46 chromosomes, which contains all of a person's DNA and genes. Two of which that determines a persons gender. Kinefelter syndrome is the result of one extra X written as XXY. Some of the cells in a male's body have an additional x chromosome. It is found in about 1 out of every 500-1,000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. Women who have pregnancies after the age of 35 have a slightly increased chance of having a boy with this syndrome. Males who have Kinefelter syndrome may have the following symptoms: small firm

Reproductive disorder can occur in males and females, in some cases resulting in infertility in female and impotency in male. To prevent these complications early detection and treatment is recommended.

(Kids Health 2015) It occurs sporadically. There isn’t a certain age, but tests are definitely used to diagnose KS with hormone testing and chromosome analysis, which usually involves blood tests. (Mayo Clinic Staff 1998-2015) There isn’t a cure to this condition, but there are treatments available. The lack of testosterone sends many males with KS to testosterone replacement therapy helps with maintaining suitable levels of red blood cells, muscle strength, bone density, and reproductive function. (Cleveland Clinic 2009) Chromosome analysis is the evaluation of determining how a person’s chromosomes are built to discover any malfunctions or abnormalities (American Association for Clinical Chemistry, 2001 – 2015). A KS patient could also receive breast reduction surgery. It would be wiser to have this operation after the testosterone replacement therapy because the therapy actually promotes breast growth. To help the language and learning symptoms, speech and language therapy can be provided. Physical and occupational therapy may be helpful in rebuilding muscle and coordination. (Klinefelter syndrome and other sex chromosomal aneuploidies, October 2006) Depending on the severity of the syndrome, you can live a normal life. Most men get jobs, form relationships and have a normal life span. (Your Hormones, 2014) Life expectancy is normal unless in extreme cases 2.1 years. (Alexandra M. Molnar, MD; Genji S. Terasaki, MD; John K. Amory, MD, 2010) Doctors and scientist are working hard to conduct new information on Klinefelter Syndrome. There is no cure, but they are working hard on finding one. Although this syndrome is not new, research is still ongoing and they need more people to volunteer and really help with new discoveries. Klinefelter Syndrome is on its way. (EMedTV,

Krabbe’s disease has many signs and symptoms. There are three stages of this condition in infantile form. Stage 1: The infant is seemingly normal and healthy for the first couple months after birth. However during early onset of this disease, the child has signs of incoordination, vomiting, irritability, unexplained fevers and stiff posture. Initial symptoms that may occur are seizures (Wenger 2000). There is slight developmental regression and behavioral abnormalities, in particular, displaying hypersensitivity to sound and touch (ORDR). Throughout this stage, the Cerebrspinal Fluid (CSF) protein concentration at this point is significantly increased (Wenger 2000). The CSF is a liquid that bathes the brain and spinal cord. Its function is to cushion the brain and spinal cord, protecting against injury. It also circulates chemicals and certain nutrients that are filtered from the blood and it also removes waste products from the brain (Lantos 2011).

“The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential” (Wang, 2011). Since these individuals are unable to go through puberty since they lack the sex hormones estrogen and progesterone, they can be placed on hormone replacement therapy during adolescence to induce menstruation. These hormones will also aid in the development of female secondary sex characteristics such as breast enlargement and uterine growth. Woman with this disorder cannot produce ova but can still become pregnant. They can do so by a donated egg or embryo. Hormone replacement therapy also helps these people by reducing the chance of them developing reduced bone density like osteopenia and osteoporosis

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

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

This is when a male is born with more then one X chromosome, and can be be found in varying amounts. Klinefelter's patients are fine until they reach puberty, which is where there testosterone levels decrease extremely. This can lead to sterilization, learning disabilities and emotional insecurities. There is no cure, but the children can see a speech therapists, as well as get monthly testosterone shots to development more normally. PKU is a genetic disease that is a rare metabolic disorder caused by a phenylalanine hydroxylase deficiency. It is an autosomal recessive disorder that is incurable, causes mental incapacity. There is no way to treat the patient completely, but they can stay on a specialized diet to prevent an increase in the mental instability. It effects the nervous systems and its creation of nerve cells and neurotransmitters in the brain. PKU varies in up to 400 types and affect every one in about 15,000 a year in the United States. The signs and symptoms are not relevant until about one year old. The most popular to test for PKU is using blood from a babies hell and the Guthrie bacterial inhibition assay. PKU is confirmed by the presence of bacteria growing on high concentration of PAH. Mothers must be extremely careful, because if too much PKU is in their diet they can cause brith disorders such as

A 27 year old, male, referred to my clinic on December 2011, complaining of infertility. Patient works as a pizza maker, he has been working for approximately 7 years, a shift of 5 to 6 days weekly, 8 hours a day in a restaurant, where he is exposed to 800+ Fahrenheit degree in the kitchen oven. Patient reports he drinks alcohol beverage occasionally on weekends, but also tries to drink plenty of water throughout the day to maintain him hydrated. States his diet is not the best. Patient and his wife have been trying to conceive for over a year and a half without any luck. Secondary complaint is high stress level, occasionally feel irritable, low libido, nocturnal emission, coldness and pain in the lower back, dry and itchy genitalia area,

Most men with this condition produce little or no sperm. Men with this syndrome also have low testosterone and reduced muscle mass, facial hair, and body hair. It affects all sex characteristics of a male's body. It affects the characteristics that a man without klinefelter syndrome should have.

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

Klinefelter syndrome is a chromosomal condition that affects male's physical and cognitive development. Males with Klinefelter syndrome don’t know they have it, so they lead normal lives. Klinefelter syndrome occurs in about 1 to 1000 males. The cause of Klinefelter syndrome is the presence of an extra X chromosome in males often occurs when the genetic material in the egg splits unevenly, but it also can happen when the genetic material in the sperm splits unevenly. Men with Klinefelter syndrome don’t have obvious symptoms. Others may have sparse body hair, enlarged breast, and wide hips. Almost all men their testicles remain small. Their voices may not be as deep and they cannot father children.

Due to the wide variability of the many symptoms and effects, affected males with KS may have all of the symptoms and some may only have a few of the effects. Common symptoms are sparse body hair, tallness, infertility, small testes, and gynecomastia. As said before, many males with Klinefelter syndrome do not show many of these effects on the body but that does not mean that