KLINEFELTER SYNDROME

• Presented By:- GAURAV MURLIDHAR DUBHELE

• Guided By:- ELENE PETRISHVILI

What is Klinefelter syndrome?
• A genetic disorder in which there is at least one extra X chromosome to a standard
human male karyotype.
• So Klinefelter Syndrome is a trisomic disorder.
• It occurs in about 1 out of 1000 males.
• This condition is not typically inherited from one parents.
-Frequency: roughly between 1:500 to 1:1000 live male births

-47,XXY is the most common sex chromosome aneuploidy in males and the second most
common condition caused by the presence of extra chromosomes.

-Other mammals also have the XXY syndrome, including mice.

 HISTORY

The syndrome was named after Harry F.Klinefelter.

In 1942, worked with Fuller Albright at Massachusetts general hospital in Boston,
Massachusetts and first described it in the same year.
Firstly described in 9 men: infertility, gynecomastia, hypogonadism, elevated FSH, atrophic
testis.
By the late 1950's, researches discovered that these men had an extra sex chromosome thus
having the pattern XXY.
 Causes of Klinefelter syndrome

 ANXIETY AND DEPRESSION

 DIABETES AND HYPOTHYROIDISM
 LUPUS AND RHEUMATOID ARTHRITIS
 TOOTH PROBLEMS

 INFERTILITY
 WEAK BONES (OSTEOPOROSIS)
 HEART AND BLOOD VESSEL DISEASE
 BREAST CANCER
 LUNG DISEASE
 SYMPTOMS

-At Birth and Childhood

o Undescended testicles
o Slow motor development
o Delay in speaking
o Taller than average height
o Longer legs and broader hips
o Weak muscles
 SYMPTOMS

AT PUBERTY
-

•Small testicles (hypogonadism)

•Breast tissue development (gynaecomastia)
•Low sperm count or no sperm
•Low sex drive
•Weak bones
•Decreased facial and body hair
•less muscular than normal
•Increased belly fat
•Small penis
 DIAGNOSIS

*HORMONE TESTING
Blood or urine samples can reveal abnormal hormone levels that are a sign of klinefelter
syndrome.
 DIAGNOSIS

*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 chromosome.
 TREATMENT

TESTOSTERONE REPLACEMENT THERAPY

• It helps to stimulate changes in the time of puberty.
• Changes such as developing a deeper voice, growing facial and body hair, and increasing
muscle mass and penis size.
• It will not result in testicle enlargement or improve infertility.
 TREATMENT

*BREAST TISSUE REMOVAL

In males who develop enlarged breasts, excess breast tissue can be removed by a plastic surgeon,
leaving a more normal-looking chest.

*SPEECH AND PHYSICAL THERAPY

These treatments can help boys with Klinefelter syndrome
overcome problems with speech, language and muscle weakness.
 TREATMENT

*FERTILITY TREATMENT
• Intracytoplasmic sperm injection (icsi)-minimal sperm production patient
• During ICSI, sperm is removed from the testicle with a biopsy needle and injected directly into
the egg
 TREATMENT

*PHYSCOLOGICAL COUNSELLING
A family therapist, counselor or psychologist can help work through the emotional issues
•THANK YOU!!!!!