Novaliches High School

Senior High School Department

Science, Technology, Engineering, and Mathematics
#1 Lakandula St., T.S. Cruz Subdivision, Barangay San Agustin, Quezon City

A Case Study on Klinefelter Syndrome (XXY)

Presented by:

Ignas, Cristelle Joyce C.

Torres, Eliona Faith S.

Ombao, John Lawrence D.

Obiena, Aldraine C.

STEM 12 – Quisumbing
Introduction

Klinefelter disease (also called XXY syndrome), was first outlined by Dr. Harry
Klinefelter in 1942, and is among the more prevalent chromosomes disorders in men
(Centre for Genetics Education, November 2021). According to Mierla, D., Jardan,
D., & Stoian, V. (2014), Klinefelter’ syndrome was the most frequent chromosomal
aberration in azoospermic men (Centre for Genetics Education, November 2021).
Nevertheless, frequent characteristics are small testes, azoospermia and
hypergonadotropic hypogonadism. Also, neurocognitive and psychosocial
manifestations can be seen as well as cardiovascular, metabolic and bone-related
conditions of adverse nature (Zitzmann, M., Aksglaede, L., Corona, G., Isidori, A. M., Juul,
A., T'Sjoen, G., Kliesch, S., D'Hauwers, K., Toppari, J., Słowikowska‐Hilczer, J., Tüttelmann,
F., & Ferlin, A. 2020). Boys and men who have acquired this disorder will not usually
realize that they have an extra chromosome, however, it will be shown and revealed
through the complications and problems that it comes with. Researchers estimate
that up to 75% of affected men and boys go their entire lives without receiving a
diagnosis since the symptoms of the disorder are sometimes so faint that they are
not discovered until adolescence or adulthood (U.S. National Library of Medicine,
n.d.).

These disorders are usually goes unnoticed until the signs and symptoms have
worsened. Due to the lack of public knowledge, not a lot of people are aware of
these cases. There is not enough representation of these conditions, thus, keeping
them in the dark and unheard. To that end, this case study is to examine different
perspectives and knowledge of the public regarding Klinefelter Syndrome.

Background of the Study

Klinefelter Syndrome goes by a lot of aliases or names, such as: 47,XXY syndrome,
Klinefelter syndrome (KS), XXY syndrome, and XXY trisomy. The disorder is caused
by an additional chromosome. Every human cell normally contains 46 chromosomes,
including two sex chromosomes. Males have one X and one Y chromosome, while
females have two X chromosomes (46,XX) (46,XY). X and Y chromosomes are often
present in boys and men with Klinefelter syndrome, along with an additional X
chromosome for a total of 47 chromosomes (47,XXY) (U.S. National Library of
Medicine, n.d.). The additional copies of genes on this chromosome may interfere
with testicular development and cause them to produce less testosterone (the male
sex hormone) than normal (NHS, n.d.). The activity of these extra genes may disrupt
many aspects of development, including sexual development before birth and at
puberty. The extra X chromosome is caused by either the mother's egg or the
father's sperm possessing it, with equal odds of this happening in either. As a result,
after conception, the chromosome pattern is XXY rather than XY, which means that
Klinefelter syndrome is not directly inherited (NHS, n.d.)

The Klinefelter Syndrome also has variants with having Several conditions resulting
from the presence of more than one extra sex chromosome in the cells; variants
such as Mosaic Klinefelter syndrome (46,XY/47,XXY), 48,XXXY syndrome, 48,XXYY
syndrome, and 49,XXXXY syndrome (U.S. Department of Health and Human
Services, n.d.). Mosaic Klinefelter Syndrome have an extra X chromosome in only
some of their cells; other cells typically have one X and one Y chromosome. These
conditions, like Klinefelter syndrome, can cause learning impairments and issues
with speech and language development, and also have an impact on male sexual
development. The symptoms of these illnesses, nevertheless, frequently involve
more body systems and are more severe than those of Klinefelter syndrome (U.S.
National Library of Medicine, n.d.).

Signs and symptoms of the disorder in babies and toddlers include weak muscles
and very flexible (hypermobile) joints, learning to sit up, crawl, walk and talk later
than usual, being quieter and more passive than usual, having undescended
testicles, only one testicle, or a smaller penis. Whereas in childhood it may seem
being shyness and low self-confidence, problems with reading, writing, spelling and
paying attention, mild dyslexia or dyspraxia, low energy levels, and difficulty
socialising or expressing feelings. With teenagers, growing taller than expected for
the family (with long arms and legs), broad hips, poor muscle tone and slower than
usual muscle growth, reduced facial and body hair that starts growing later than
usual, small, firm testes, and enlarged breasts (gynaecomastia) in very rare cases.
And with adults, inability to have children naturally (infertility), low sex drive, small,
firm testes, and erection problems (NHS, n.d.).

Testing and Management

There are a couple of ways to test whether your baby has Klinefelter Syndrome,
Chromosome testing may be offered during pregnancy to check. Prenatal tests can
happen in a number of different ways and at certain stages of the pregnancy.
Screening tests give a risk or estimate of the chance that a baby has a health
condition. Diagnostic tests provide a more accurate result since they are generally
directly testing the baby. It may also be possible to have pre-implantation genetic
diagnosis (PGD) to look for chromosome conditions in an embryo made using in vitro
fertilisation (IVF). These tests are optional and must always be consulted with a
professional with proper consent from the mother (Centre for Genetics Education,
November 2021).

While there is no cure for Klinefelter Syndrome there are additions to the condition
that can be treated as necessary; TRT also known as Testosterone Replacement
Therapy, involves using testosterone-containing medications. Long-term treatment of
TRT during adulthood may also help with several other problems associated with
Klinefelter syndrome – including osteoporosis, low mood, reduced sex drive, low
self-esteem and low energy levels – although it cannot reverse infertility. Children
can take it as pills or gels, and adult men can receive it as injections or gel. Speech
and language therapy during childhood to help with speech development,
occupational therapy to help with any co-ordination problems associated with
dyspraxia, fertility treatment options include artificial insemination using donor sperm
or possibly intracytoplasmic sperm injection (ICSI), where sperm removed during a
small operation are used to fertilise an egg in a laboratory (NHS, n.d.).

Prevention

Klinefelter syndrome is a genetic disorder that unfortunately cannot be avoided. It is

a chance genetic error that develops prior to birth. There is nothing a parent can do
to stop their child from developing Klinefelter syndrome because this ailment is not
inherited (not handed down through the family). We can only provide them with love
and support as they grow up.

Statistics

Around 1 in 650 newborn boys are affected by Klinefelter syndrome. As a result of

variations in the number of sex chromosomes, it is one of the most prevalent sex
chromosome disorders (the X chromosome and the Y chromosome). About 10
percent (10%) of boys and men with Klinefelter syndrome have autism spectrum
disorder (U.S. National Library of Medicine, n.d.).

Only approximately 10% of men with KS have mosaicism (47, XXY / 46, XY) with 47,
XXY present in some tissues and the normal karyotype in other tissues, which is due
to post-fertilisation mitotic nondisjunction during early foetal development. In
addition, patients with 47, XXY / 46, XY mosaicism are diagnosed later in life
between 14.5 and 62 years (Maung, A. C., Hsieh, J. Y. C., Carmody, D., &; Soon, S.
D. 2021).

Klinefelter syndrome is thought to occur in 1 in every 500 or 1 in every 1,000 males

born in Australia each year. In around 50% (1 in 2) of people with the condition there
is some growth of breast tissue at puberty (gynaecomastia). Sometimes, plastic
surgery may be considered to reduce breast tissue (Centre for Genetics Education,
November 2021).

Report and Discussion

Genetic afflictions are a source of interest and concern for everyone. These
conditions can cause a wide range of physical and mental challenges for patients,
which requires everyone to have a comprehensive understanding of the condition
and its potential impact on the patient's quality of life. In this narrative report, we will
explore the reactions and concept of the community towards genetically afflicted
persons specifically those with Klinefelter syndrome.

Medical and science majors alongside STEM students who encounter patients with
genetic afflictions or are knowledgeable about the topic react differently depending
on their training, experience, and specialization. Some display empathy and
compassion towards patients, while others exhibit a more clinical and detached
approach. However, overall, people on said fields strive and advocates to provide the
best possible treatment the patients should be getting in our society, regardless of
their genetic condition.

With regards to Klinefelter syndrome and the concept of genetic afflictions as a

whole they understand that genetically afflicted persons are individuals who have
inherited genetic mutations or alterations that result in a specific condition or
disorder. They recognize that genetic afflictions can have a wide range of impacts on
individuals, including physical, cognitive, emotional, and social aspects. With their
educational and professional background, they are also aware that those with
Klinefelter syndrome have a genetic condition that affects their sex chromosomes,
resulting in physical, hormonal, and psychological differences compared to typical
males.

All parties are also aware that individuals with Klinefelter syndrome and those with
other genetic afflictions may face unique challenges such as fertility issues,
hormonal imbalances, developmental delays, body image concerns, and potential
social and psychological impacts. They acknowledge the importance of providing
holistic care that considers the physical, hormonal, and psychological aspects of the
patients, and strive to promote patient-centered care that addresses the individual's
unique needs. They all collectively recognize the importance of education,
counseling, and advocacy for individuals with genetic afflictions and their families
and the masses an some engage in activities such as providing genetic counseling,
raising awareness, promoting policies that ensure equitable access to healthcare
and resources, and advocating for research and advancements in diagnostics and
treatments for Klinefelter syndrome.

In conclusion, medical and science majors alongside STEM students display

different reactions and concepts. However, collectively they are all into providing the
best possible care for the patients, including accurate diagnosis, personalized
treatment plans, and psychological support. They also recognize the unique needs of
patients with genetic conditions and work to address these needs by providing
holistic care and advocating for policies that promote equitable access to healthcare
and social support services.
References

Klinefelter syndrome. Centre for Genetics Education. (2021, November). Retrieved

April 12, 2023, from
https://www.genetics.edu.au/PDF/Klinefelter_syndrome_fact_sheet-CGE.pdf

Maung, A. C., Hsieh, J. Y. C., Carmody, D., & Soon, S. D. (2021). Lessons of the
month 3: Mosaic Klinefelter syndrome unveiled by acute vertebral fracture in a
middle-aged man. Clinical Medicine, 21(4).
https://doi.org/10.7861/clinmed.2021-0348

NHS. (n.d.). Klinefelter syndrome. NHS choices. Retrieved April 12, 2023, from
https://www.nhs.uk/conditions/klinefelters-syndrome/

U.S. Department of Health and Human Services. (n.d.). Klinefelter syndrome (KS).
Eunice Kennedy Shriver National Institute of Child Health and Human
Development. Retrieved April 12, 2023, from
https://www.nichd.nih.gov/health/topics/klinefelter

U.S. National Library of Medicine. (n.d.). Klinefelter Syndrome: Medlineplus genetics.

MedlinePlus. Retrieved April 12, 2023, from
https://medlineplus.gov/genetics/condition/klinefelter-syndrome/

Zitzmann, M., Aksglaede, L., Corona, G., Isidori, A. M., Juul, A., T'Sjoen, G., Kliesch,
S., D'Hauwers, K., Toppari, J., Słowikowska‐Hilczer, J., Tüttelmann, F., &
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syndrome endorsing organization: European Society of Endocrinology.
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Mierla, D., Jardan, D., & Stoian, V. (2014). Chromosomal abnormality in men with
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