Klinefelter syndrome research paper

Endocrine Disease Research Paper

Write a research paper on a disease that relates to the Endocrine System. The disease can affect a specific endocrine

organ or develops from the imbalance of a hormone(s). There should be a Title Page, Body, and Reference Page. Make a

creative title for your research paper that relates to your topic. Post the topic you would like to cover on the discussion

board. Only one student is allowed to cover a specific disease topic.

Information in the body of your paper should include, but not limited to:

1. Background information about the organ

a. Brief background on the organ this disease infects

i. State the normal anatomy and physiology of the affected organ

ii. Describe the hormone involved in the disease and its normal function

1. Include the secretion stimulus, target tissue, and normal response

2. Detail the negative feedback mechanism(s) that maintain homeostatic secretions of

this hormone.

2. Background information about the disease

a. Describe how the disease affects the body.

i. Include whether it deals with hyposecretion or hypersecretion of the hormone

b. When was this disease first diagnosed? By whom?

c. Add any other interesting information found

3. What leads to the development of this disease?

4. Risk factors

• Who has a greater risk of developing this disease?

5. Symptoms

• List the signs and symptoms associated with the disease

6. How is it diagnosed?

• Describe the specific tests performed (specific name and how the procedure is conducted)

7. How is it treated?

• Describe the specific treatment and/or medication. What does the medication target and how does

it lead to treatment? If there is no treatment, discuss methods used for therapy and improving

quality of life.

8. Prevention or Management

• Discuss ways the disease can be prevented or managed

9. Prevalence around the world

• Statistics on the presence of this disease within US locations AND around the world

10. Current research

– Provide a summary of the most recent (within 5 years) research being done on this disease using

journal articles

**At the end of the body, provide a conclusion paragraph to wrap up your paper.

Formatting

❖ APA 7th edition

❖ Typed and double-spaced on standard-sized paper (8.5” x 11”), with 1” margins on all sides

❖ Font: 11 pt. Calibri

❖ No page headers

❖ Include a page number at the top right of every page

❖ Organize each topic in a separate, indented paragraph. Use transitions that introduce each new topic.

❖ Page Limit: Body of paper – minimum 2 pages – maximum 5 pages. Title page and Reference page needed.

❖ Required References: Textbook, credible website (ex. Cdc.gov, who.int, pubmed), peer-reviewed journal.

7

Klinefelter Syndrome

Kenya Scott

Technical College of the Lowcountry

Anatomy and physiology II

10/11/2020 Comment by Catherine Goodwin: Write out date

Klinefelter Syndrome

Klinefelter Syndrome represents chromosomal variations in males, which arises from an extra X chromosome leading to a 47, XXY karyotype. Therefore, Klinefelter Syndrome is a chromosomal disorder affecting the males’ external reproductive organs such as the testes.

Background Information about the Organ

Brief Background on the Organ Klinefelter Syndrome Infects

The testes represent the male gonads in the reproductive systems where they produce sperms and androgens like testosterone. Testes are active in the entire lifespan of a male and are paired. The paired testes are enclosed within the scrotum, and two distinct membranes of protective connective tissue surround them. The outer tunica vaginalis membrane has the parietal and thin visceral layer. Below the tunica vaginalis lies a white, chewy, dense connective tissue layer, tunica albuginea, covering the testes (Hutson, 2017). The tunica albuginea covers the outer part of the testes and creates septa for dividing testis into lobules. The lobules represent more than 300 structures where the sperms are developed in the seminiferous tubules. During the seventh gestation month, the “descent of the testis” occurs where every testis moves via the abdomen to reach into the scrotal cavity. After the formation and the maturity of the sperms, they are forced to the epididymis for storage and later released during ejaculation. As noted earlier, the seminiferous tubules are coiled and create bulk for every testis. They consist of growing sperm cells around a lumen that the formed sperms are disseminated into the testis’ duct system. The seminiferous tubules contain the germ and Sertoli cells encompassed by the by peritubular cells. The spermatogenesis takes place during adulthood as the androgen receptors become expressed. Therefore, the testes produce male sex hormones and gametes for reproduction. Comment by Catherine Goodwin: This information is not found in this source. Check source. Comment by Catherine Goodwin: Chewy? Comment by Catherine Goodwin: Source for this information? In text citation(s) needed.

The Klinefelter syndrome occurs due to decreased levels of androgens that lead to the response-mediated escalated pituitary secretion of luteinizing hormone, and stimulating follicle hormone (FSH) causes a relative increase in the estrogen levels (Hutson, 2017). Therefore, the disorder arises from an elevated estrogen to androgen proportions in males. The estrogen target tissues include the breast, brain, bone marrow, and testes in males. The estrogen’s normal functioning helps in the males’ sexual functioning in moderating libido, spermatogenesis, and erectile function. In the negative feedback mechanism, maintaining estrogen’s homeostatic production in males occurs with the escalating levels of testosterone that act on the anterior pituitary and hypothalamus. This inhibits the follicle-stimulating hormone (FSH), gonadotropin-releasing hormone, and luteinizing hormone (LH) in the males’ system that later cause a low rate of spermatogenesis, making the estrogen levels higher than those of androgens. Comment by Catherine Goodwin: This information is not in Hutson source.

Background Information about the Disease

The Klinefelter syndrome affects testicular development, leading to smaller than standard testicles size and later causes low testosterone production. It affects both the mental and physical development of males. Klinefelter syndrome deals with the hyposecretion of the testosterone hormone.

It results from low than normal production testosterone hormone in males. Dr. Harry Klinefelter and his co-workers established combination traits in 1942. In the late 1950s, researchers found men with an extra X chromosome, XXY, instead of XY. It is for this reason that it has been recognized as Klinefelter syndrome. Many males live with the Klinefelter syndrome without realizing it or suspect its presence due to the disorder’s uncommonness. However, there is no justifiable evidence of the factors that put a couple into the risk of conceiving an XXY child. In the United States, the research reveals that out of 500 to 1000 cases of male children births, there is one (1) possible XXY child. Comment by Catherine Goodwin: Source?

Further, older mothers have a higher risk of giving birth to an XXY chromosome child than their young counterparts. Several diagnosed cases are steered by the increased complaints of gynecomastia and infertility (Aziz & Agarwal, 2017). Other leading factors include erectile dysfunction, osteoporosis, subnormal libido, and behavior problems. People with Klinefelter Syndrome are prone to some strain of cancer and other disorders such as type 2 diabetes and osteoporosis.

Leads to the Development of Klinefelter Syndrome

The development of Klinefelter Syndrome occurs due to the random errors that make the males born with an additional sex chromosome. The disease is not hereditary and occurs due to genetic code over-right before birth. The development of the Klinefelter Syndrome occurs after failure to separate paired X chromosomes in the first and second meiosis stages. The paternal and maternal nondisjunction equally contributes to the occurrence of the disorder.

Risk Factors

Older women and those who are past 35 years have a higher risk of having a boy child with a Klinefelter Syndrome than younger women (Mayo Clinic, 2019, September 21). The Klinefelter Syndrome originates from random genetic misalignments and events; thus, it is not increased by what a mother does nor does not do.

Symptoms

The signs and symptoms of Klinefelter Syndrome vary with age: babies, boys and teenagers, and men. In babies, the prevalent symptoms of Klinefelter Syndrome include weak muscles, slow motor development where the child takes longer than usual to sit up, crawl, and walk. Delayed speaking and problems at birth, like testicles that have not descended into the scrotum, represents the other signs of Klinefelter Syndrome in babies. Comment by Catherine Goodwin: Source?

Among the boys and teenager, the symptoms of Klinefelter syndrome include being taller than average stature, small and firm testicles, small penis, enlarged breast tissue (gynecomastia), weak bones, low energy levels, tendency to be shy and sensitive, difficulty expressing thoughts and feelings or socializing, problems with reading, writing, spelling or math (Mayo Clinic, 2019, September 21). Besides, longer legs, shorter torso, and broader hips than other boys absent, delayed or incomplete puberty, and after puberty, less muscle, few facial and body hair compared with other teens represent common signs of Klinefelter Syndrome among the boys and teenagers. In men or adults, the symptoms of Klinefelter Syndrome include weak bones, decreased facial and body hair, less muscular compared to other men, breast tissue enlargement, escalated belly fat, low sex drive, small testicles, and penis, tall than average and low sperm count or no sperm. Comment by Catherine Goodwin: Use year only Comment by Catherine Goodwin: Source?

Diagnosis

Diagnosing Klinefelter Syndrome is executed using two primary tests; the hormone testing and chromosome analysis. In hormone testing, urine or blood samples are useful for revealing abnormal hormone levels signifying the disorder. The chromosome analysis test is also referred to as karyotype analysis, helpful in confirming Klinefelter Syndrome by sending the blood sample to the laboratory to examine the shape and quantity of chromosomes. Additionally, Klinefelter Syndrome may be suspected during a non-invasive prenatal blood test and screening. However, to confirm the facts, amniocentesis is needed. Comment by Catherine Goodwin: Source for this information?

Treatment

Even if there is no way of repairing sex chromosome changes because of Klinefelter Syndrome, the therapies minimize its impacts and seek to attain the quality of life. The available treatments for Klinefelter syndrome include testosterone replacement therapy to help accelerate changes that take place during puberty. It aims to improve bone density, improve behavior and mood, and minimize the risk of fractures.

The breast tissue removal therapy is productive for removing the excess breast tissue through plastic surgery, leaving a normal-looking chest (Aziz & Agarwal, 2017). It seeks to boost self-esteem and quality of life among the infected males. Speech and physical therapy are applicable to help the boys with muscle weakness and language and speech problems to help in linguistic development. Educational evaluation and support help reduce socialization and learning problems through counselors and other support systems.

Fertility treatment applies to the infected persons who cannot sire due to low sperm count or no sperms (Aziz & Agarwal, 2017). The intracytoplasmic sperm injection (ICSI) uses a biopsy needle to remove sperm and directly inject it into the ovum. Psychological counseling is the other therapy for adolescents and men coping with infertility. It is achievable by using a family therapist or a counselor to improve the quality of life through emotional development.

Prevention or Management

Klinefelter syndrome is a genetic disorder that cannot be prevented but can be managed after one has been diagnosed and tested positive (Aziz & Agarwal, 2017). Managing the condition calls for a complex neurodevelopmental evaluation through multidisciplinary developmental evaluation to establish effective treatment during infancy and early childhood. When there are real laboratory results for adolescents, Androgen therapy should be initiated to meet the testosterone deficit.

Prevalence around the world

It is estimated that at least 3000 boys are born with Klinefelter Syndrome annually, and one (1) person is infected for every 500 to 1000 births in the United States. Based on the cytogenetic chromosome surveys among the newborns, white and Japanese population establish that 152 out of 100,000 newborn males are diagnosed with Klinefelter Syndrome and a range of 85 to 223 per 100,000 males aged 16 to 23 tested positive for the disorder (Gravholt, Chang, Wallentin, Fedder, Moore, & Skakkebæk, 2018). The Australian study indicates a pre-natal prevalence of 223 for 100,000 samples and 87 out 100,000 for post-natal prevalence. Additionally, in the United States, Klinefelter Syndrome is prevalent among the whites with 166 for every 100,000 samples, and it is dominant among the Asian ethnicity with 355 out of 100,000. Comment by Catherine Goodwin: (Graveholt et al., 2018) Comment by Catherine Goodwin: Since this info is also from Graveholt etc, put parenthetical citation at end of paragraph

Current research

“The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature” examines various features of people with Klinefelter Syndrome, indicating their difficulties in learning and low self-confidence that affect their interaction pattern. The research uses a literature review method to draw inferences on the topic. The study establishes that lack or late diagnosis is a significant problem influencing Klinefelter Syndrome. The prenatal screen would improve future diagnosis and improve mental and physical health for increased quality of life (Hanna, Cheetham, Fearon, Herbrand, Hudson, McEleny, Quinton, Stevenson, & Wilkes, 2019). The research suggests an early screening to mitigate the impacts of the disease. Comment by Catherine Goodwin: Use: (Hanna et al. 2019)

Conclusion

In conclusion, Klinefelter Syndrome is a chromosomal disorder that leads to a 47, XXY karyotype, and inhibits the secretion of testosterone. The disorder’s features, such as small than usual sexual organs and abnormality in puberty features, are evident for the Klinefelter Syndrome examination. The disease is not heredity; it is genetic and thus cannot be prevented. Managing the disorder through various therapeutic programs is the best approach to mitigate.

References Comment by Catherine Goodwin: Put citations in alphabetical order

Hanna, E. S., Cheetham, T., Fearon, K., Herbrand, C., Hudson, N., McEleny, K., Quinton, R., Stevenson, E., & Wilkes, S. (2019). The lived experience of Klinefelter syndrome: A narrative review of the literature. Frontiers in Endocrinology, 10. 

https://doi.org/10.3389/fendo.2019.00825

Gravholt, C. H., Chang, S., Wallentin, M., Fedder, J., Moore, P., & Skakkebæk, A. (2018). Klinefelter syndrome: Integrating genetics, neuropsychology, and endocrinology. Endocrine Reviews, 39(4), 389-423. 

https://doi.org/10.1210/er.2017-00212

Aziz, N., & Agarwal, A. (Eds.). (2017). The diagnosis and treatment of male infertility: a case-based guide for clinicians. Springer. Comment by Catherine Goodwin: Were you able to access this ebook?

Hutson, J. (2017). Testis embryology, anatomy and physiology. Endocrine Surgery in Children, 271-279. 

https://doi.org/10.1007/978-3-662-54256-9_19

Comment by Catherine Goodwin: Cite as a chapter in a book, so include chapter title, book title and editors. See Example

Mayo Clinic. (2019, September 21). Klinefelter syndrome – Symptoms and causes. Retrieved September 30, 2020, from 

https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/symptoms-causes/syc-20353949

Comment by Catherine Goodwin: Not needed.