Klinefelter's Syndrome Class 12 Project File

Topic : A CASE STUDY :
KLINEFELTER’S
SYNDROME
NAME :
CLASS : SECTION :
ROLL NO. :
SCHOOL :
SESSION :
ACKNOWLEDGEMENT
I would want to express my special thanks of gratitude

to my Biology teachers, Mrs. xyz Ma'am and xyz sir ,
for giving me the excellent opportunity to work on this
wonderful research about Klinefelter's syndrome.
I am also appreciative of their needful guidance, which

enabled me to finish the assignment.
I also want to express my gratitude to our biology lab

assistant for his support regarding the project.
abc
XII-B
CERTIFICATE
This is to certify that abc of class XII B has

successfully completed the project on the topic
Klinefelter’s syndrome provided by Mr. xyz and
Mrs. xyz ma’am during academic session 2024-25
as per the guidelines issued by central board of
secondary education.
Biology teacher Biology teacher

xyz xyz
Principal sir External examiner and Examiner no.

DPS pqr
CONTENTS
TOPICS PAGE NUMBER
1. WHAT IS KLINEFELTER’S 5
SYNDROME ?
2. SYMPTOMS 6-8
3. CAUSES 8
4. COMPLICATIONS 10
5. HOW IS KLINEFELTER’S 11
SYNDROME
DIAGNOSED?
6. CASE REPORT 11 - 14
 REPORT 1
 REPORT 2
 REPORT 3
7. HOW IS KLINEFELTER’S 15 - 16
SYNDROME TREATED ?
8. PHOTO GALLERY 16
9. MEDICAL REPORT OF 17 - 18
AN ADULT WITH
KLINEFELTER’S
SYNDROME
10. BIBLIOGRAPHY 19
WHAT IS KLINEFELTER’S
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 genetic
condition affecting males, and it often isn't diagnosed
until adulthood.
Klinefelter syndrome may adversely affect testicular
growth, resulting in smaller than normal testicles,
which can lead to lower production of testosterone.
The syndrome may also cause reduced muscle mass,
reduced body and facial hair, and enlarged breast
tissue. The effects of Klinefelter syndrome vary, and not
everyone has the same signs and symptoms.
Most men with Klinefelter syndrome produce little or
no sperm, but assisted reproductive procedures may
make it possible for some men with Klinefelter
syndrome to father children.
Symptoms
Signs and symptoms of Klinefelter syndrome vary
widely among males with the disorder. Many boys with
Klinefelter syndrome show few or only mild signs. The
condition may go undiagnosed until adulthood or it
may never be diagnosed. For others, the condition has
a noticeable effect on growth or appearance.
Signs and symptoms of Klinefelter syndrome also vary
by age.
Babies
Signs and symptoms may include:
 Weak muscles
 Slow motor development — taking longer than
average to sit up, crawl and walk
 Delay in speaking
 Problems at birth, such as testicles that haven't
descended into the scrotum.
Boys and teenagers
 Taller than average stature
 Longer legs, shorter torso and broader hips
compared with other boys
 Absent, delayed or incomplete puberty
 After puberty, less muscle and less facial and body
hair compared with other teens
 Small, 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
Men
 Low sperm count or no sperm
 Small testicles and penis
 Low sex drive
 Taller than average height
 Weak bones
 Decreased facial and body hair
 Less muscular compared with other men
 Enlarged breast tissue
 Increased belly fat
Causes
Klinefelter syndrome occurs as a result of a random
error that causes a male to be born with an extra sex
chromosome. It isn't an inherited condition.
Humans have 46 chromosomes, including two sex
chromosomes that determine a person's sex. Females
have two X sex chromosomes (XX). Males have an X
and a Y sex chromosome (XY).
Klinefelter syndrome can be caused by:
 One extra copy of the X chromosome in each cell
(44 A + XXY , i.e 47 chromosomes), the most
common cause
 An extra X chromosome in some of the cells
(mosaic Klinefelter syndrome), with fewer
symptoms
 More than one extra copy of the X chromosome,
which is rare and results in a severe form
Extra copies of genes on the X chromosome can
interfere with male sexual development and fertility.
Complications
Klinefelter syndrome may increase the risk of:
 Anxiety and depression
 Social, emotional and behavioural problems, such
as low self-esteem, emotional immaturity and
impulsiveness
 Infertility and problems with sexual function
 Weak bones (osteoporosis)
 Heart and blood vessel disease
 Breast cancer and certain other cancers
 Lung disease
 Metabolic syndrome, which includes type 2
diabetes, high blood pressure (hypertension), and
high cholesterol and triglycerides (hyperlipidemia)
 Autoimmune disorders such as lupus and
rheumatoid arthritis
 Tooth and oral problems that make dental cavities
more likely
 Autism spectrum disorder
HOW IS KLINEFELTER’S
SYNDROME DIAGNOSED ?
The main tests used to diagnose Klinefelter syndrome are:
 Hormone testing. Blood or urine samples can reveal abnormal
hormone levels that are a sign of Klinefelter syndrome.
 Chromosome analysis. Also called karyotype analysis, this test
is used to confirm a diagnosis of Klinefelter syndrome. A blood
sample is sent to the lab to check the shape and number of
chromosomes.
CASE REPORT : KLINEFELTER’S

SYNDROME
REPORT 1 :
NAME OF PATIENT : RONNIE P

AGE : 14 YEARS
GENETIC TESTING : XXY
PHYSICAL REPORTS : 1. Small testes

2. Gynaecomastia
BEHAVIOURAL REPORTS :
1. Ronnie P was eight years old when he began to
struggle in school.
2. His teacher brought up the idea of attention deficit disorder
after observing that he appeared impetuous and irritated.
3. IQ was normal.
4. No physical or medical problems .
REPORT 2 :
NAME : ANONYMOUS
AGE : 26 YEARS
GENETIC TESTING : XXY
PHYSICAL REPORTS : 1. Sparse facial hair
2. small and firm testes
3. no gynaecomastia
The patient had heterosexual orientation with regular

sexual intercourses but diminished libido. While
testosterone concentrations were below normal,
gonadotropin concentrations were elevated.
REPORT 3 :
NAME : ANONYMOUS
AGE : 45 YEARS
GENECTIC TESTING : 47XXY
LH: 32.04 mIU/ml
FSH: 50.70 mIU/ml
Testosterone: 1.76 ng/ml
When he was being looked at for infertility fifteen years

ago, genetic testing revealed that he had Klinefelter
syndrome (47XXY). His testosterone level was low ,
while his luteinizing hormone (LH) and follicle-
stimulating hormone (FSH) were both high . He had four
seizure episodes in 2004 and has not had a seizure in
the last ten years.
PHYSICAL REPORTS : Gynaecomastia was present and

waist circumference was 110 cm.
BEHAVIOURAL REPORTS :
1. Complaints of aggressive behaviour, hearing
voices, laughing and talking to oneself, and
mistrust. For the last six months, they have
become worse after being slightly persistent for 15
years.
2. A lack of drive to work and look after oneself and
family.
3. Psychosis resembling schizophrenia
PHOTO OF PATIENT :
CONCLUSION :
Until puberty, Klinefelter’s syndrome is typically undiagnosed.

Although it is typically discovered later in life, there are some
tests that must be performed during the mother's pregnancy in
order to diagnose it before delivery. Sometimes the illness goes
untreated because the symptoms are minor.
HOW IS KLINEFELTER’S SYNDROME TREATED ?

 Testosterone replacement therapy. Starting at
the time of the usual onset of puberty,
testosterone replacement therapy can be given to
help stimulate changes that normally occur at
puberty, such as developing a deeper voice,
growing facial and body hair, and increasing
muscle mass and sexual desire (libido).
Testosterone replacement therapy can also
improve bone density and reduce the risk of
fractures, and it may improve mood and behavior.
It will not improve infertility.
 Breast tissue removal. In males who develop
enlarged breasts, excess breast tissue can be
removed by a plastic surgeon, leaving a more
typical-looking chest.
 Speech and physical therapy. These treatments
can help boys with Klinefelter syndrome who have
problems with speech, language and muscle
weakness.
 Educational evaluation and support. Some
boys with Klinefelter syndrome have trouble
learning and socializing and can benefit from extra
assistance. Talk to your child's teacher, school
counselor or school nurse about what kind of
support might help.
 Fertility treatment. Most men with Klinefelter
syndrome are typically unable to father children
because few or no sperm are produced in the
testicles. For some men with minimal sperm
production, a procedure called intracytoplasmic
sperm injection (ICSI) may help. During ICSI, sperm
is removed from the testicle with a biopsy needle
and injected directly into the egg.
 Psychological counseling. Having Klinefelter
syndrome can be a challenge, especially during
puberty and young adulthood. For men with the
condition, coping with infertility can be difficult. A
family therapist, counselor or psychologist can help
work through the emotional issues.
PHOTOS OF PATIENTS WITH KLINEFELTER’S

SYNDROME :
MEDICAL REPORT OF AN ADULT WITH
KLINEFELTER’S SYNDROME
BIBLIOGRAPHY
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4649810/
https://www.researchgate.net/publication/11676387_Klinefelter
%27s_syndrome_Diagnosis_and_treatment_Case_report
https://staff.washington.edu/sbtrini/Teaching%20Cases/Case%2028.pdf
https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/
symptoms-causes/syc-20353949
https://images.app.goo.gl/5ACGjeMK416ghMHA9

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Topic : A CASE STUDY :

I would want to express my special thanks of gratitude

I am also appreciative of their needful guidance, which

I also want to express my gratitude to our biology lab

This is to certify that abc of class XII B has

Biology teacher Biology teacher

Principal sir External examiner and Examiner no.

Klinefelter syndrome is a genetic condition that results

CASE REPORT : KLINEFELTER’S

NAME OF PATIENT : RONNIE P

PHYSICAL REPORTS : 1. Small testes

The patient had heterosexual orientation with regular

When he was being looked at for infertility fifteen years

PHYSICAL REPORTS : Gynaecomastia was present and

Until puberty, Klinefelter’s syndrome is typically undiagnosed.

HOW IS KLINEFELTER’S SYNDROME TREATED ?

PHOTOS OF PATIENTS WITH KLINEFELTER’S

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