BIOPSYCHOLOGY WK 7 It will be a thorough review and discussion of a disorder you chose from the list below when completing your Week 3 Paper Preparation assignment. It is important to note that this i

KLINEFELTER'S SYNDROME

Klinefelter's Syndrome

Jordan Ogden

American Military University

May 16th, 2022

Klinefelter's Syndrome

Topic

When a male is born with an extra X chromosome, he develops the hereditary disorder known as Klinefelter syndrome. When a guy is an adult, he is likely to be diagnosed with Klinefelter syndrome. Patients with Klinefelter syndrome may have smaller testicles and reduced testosterone production due to issues with testicular growth. Hair loss on the body and face can occur due to the disorder. This illness can cause a wide range of symptoms, and not everyone has the same ones. Some men with Klinefelter syndrome may be able to have children through in vitro fertilization, even though their sperm production is often low or nonexistent. A wide range of signs and symptoms can be seen in men with Klinefelter syndrome. Klinefelter syndrome affects children in two ways: they have no symptoms or only a few. Most likely won't be noticed until well into adulthood. As a result of the illness, some people will experience changes in their looks or growth.

In most affected boys with Klinefelter syndrome (KS), also known as the 47, XXY syndrome, an extra copy of the X chromosome is detected. Klinefelter syndrome (KS) affects men born with an extra copy of the X chromosome. The most visible indicators of male infertility are undeveloped or dysfunctional testicles to varying degrees. Many people are unaware they have the illness since the symptoms are so modest. Some of the more obvious symptoms of this illness include becoming taller, having less body hair, experiencing breast growth, and being less interested in sex. Other symptoms include a decrease in sex drive and a decrease in breast growth. It is common for a child's first awareness of these symptoms to occur with the onset of puberty. On the other hand, reading and communication challenges are more common than intelligence limitations. Intelligence is widely considered a normal characteristic.

Klinefelter syndrome does not have a known cause. The extra X chromosome comes from both the father and the mother, and each contributes nearly the same amount. A child born to an older mother has a slightly greater risk of developing KS. To be diagnosed with the syndrome, you must have more than 46 cells, known as having an additional X or more chromosomes on top of the standard Y chromosome. KS can be detected using a karyotype, a genetic test. Despite the lack of a known cure, treatment options exist, and some may be useful. It's possible that experimenting with various forms of treatment will prove fruitful. Testosterone replacement therapy can help men with dangerously low male hormone levels.

Thesis

This research paper will majorly focus on the Klinefelter Syndrome, causes, and effects; it also summarizes five major articles done on the Klinefelter Syndrome, as described below:

Annotated Bibliography

Nieschlag, E. (2013). Klinefelter Syndrome. Deutsches Ärzteblatt International. https://doi.org/10.3238/arztebl.2013.0347

The author discusses various aspects of the Klinefelter Syndrome, summarized as follows. It is estimated that between 0.1 and 0.2 percent of all newborn male children are affected by Klinefelter syndrome (KS), associated with the karyotype 47, XXY. This makes it one of the most common congenital chromosomal abnormalities found in males. It is responsible for hypogonadism as well as infertility. However, up to this point, a diagnosis of KS was only given to approximately one-quarter of all people who had the condition during their lifetimes. If medical professionals were better familiar with and sensitive to the primary signs of KS, in particular the small, hard testicles, erectile dysfunction, and the comorbidities, there would be fewer instances in which the diagnosis of KS was missed. Patients would have a better chance of receiving early treatment, which would improve their quality of life if the diagnosis were made more frequently.

Dobs, A., & Matsumoto, A. (2009). Klinefelter Syndrome. The Journal Of Clinical Endocrinology &Amp; Metabolism, 94(12), f2-f2. https://doi.org/10.1210/jcem.94.12.9990

The most prevalent form of sex chromosomal abnormalities, Klinefelter syndrome, affects around one in every 500 to 700 miles. Chromosomes are components of all cells in the body and are responsible for determining a person's sexual orientation. Extra chromosomes are not passed down from parents but rather result from a random chance event. The Klinefelter syndrome is associated with an increased risk of developing autoimmune disorders, osteoporosis, and varicose veins. Malignancies that affect the blood, bone marrow, or lymph nodes are among the cancers more likely to strike XXY males than other types. Treatment maintained throughout one's life can help avoid chronic health problems.

Bearelly, P., & Oates, R. (2019). Recent advances in managing and understanding Klinefelter syndrome. F1000research, 8, 112. https://doi.org/10.12688/f1000research.16747.1

According to Bearelly and Oates (2019), earlier TESE sperm recovery does not improve sperm retrieval efficiency. The authors speculate that X-chromosomal transcripts and long non-coding RNAs (ncRNAs) are involved. When these were examined for sperm, they found none at median ages of 23 (range 15–26) and 20.5 (range 17–48). Only 14 of the 138 KS guys and their partners who started treatment had a live delivery. KS population's low (or nonexistent) adult testicular spermatogenesis was linked to fetal testis's inability to develop Gonocytes into pre-spermatogonia appropriately. According to their judgment, more research and exploration will be required soon. Males with delayed puberty and no virilization may benefit from testosterone replacement therapy. Several studies show that TRT has little effect on sperm retrieval rates in patients with KS 53 and 54.

Forti, G., Corona, G., Vignozzi, L., Krausz, C., & Maggi, M. (2010). Klinefelter’s Syndrome: A Clinical and Therapeutical Update. Sexual Development, 4(4-5), 249-258. https://doi.org/10.1159/000316604

Only 3–4% of men who cannot have children have Klinefelter's syndrome, but 10–12% of men with azoospermia do. Because the symptoms are so uncommon, only 10% of patients with Klinefelter are diagnosed before puberty. Adult Klinefelter patients' phenotypes range from clinically evident hypogonadism to normal virilization in men. They are diagnosed during an infertility test for a couple. Only Azoospermia or Cryptozoospermia and modest testicular size are present clinically. About two-thirds of Klinefelter patients are not diagnosed because their symptoms alter and reoccur (androgen deficiency and infertility). People with Klinefelter syndrome with hypogonadism with low or normal testosterone and high LH concentrations require testosterone treatment at puberty. Even if no medical treatment is available, up to 50% of people who cannot have children can obtain sperm from their testicles for use in assisted reproduction. Even though no one can foresee how successfully sperm retrieval will function, 101 children with normal karyotypes have been born in the last 15 years. A normal karyotype and nonobstructive azoospermia impact the children of Klinefelter patients in the same way; hence the risk to future generations is the same.

Williams, L., Pankratz, N., Lane, J., Krailo, M., Roesler, M., & Richardson, M. et al. (2018). Klinefelter syndrome in males with germ cell tumors: A Children's Oncology Group report. Cancer, 124(19), 3900-3908. https://doi.org/10.1002/cncr.31667

The most prevalent chromosome abnormalities are Klinefelter syndrome (KS), and it is also the most common cause of male infertility. In recent years, we have been able to acquire a greater level of clarity regarding the management of KS in children, the clinical symptoms of KS, reproductive difficulties, and prenatal and postnatal screening for the disease. This article aims to serve as a reference for clinical practice regarding KS by presenting an overview of the epidemiology, clinical symptoms, pathophysiological mechanism, laboratory evaluation, medication therapy, and use of assisted reproductive technologies. In addition to that, we will talk about KS screening.