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Klinefelter Syndrome


OVERVIEW OF Klinefelter Syndrome :

The men tends to have an extra X chromosomes which leads to this condition.

Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. The male secrete reduced amount of the testosterone


CAUSES :

A sperm and ovary undergoes   cell division and results in formation of the foetus. If any error occurs within this system this might result in abnormal number of chromosomes. The error that occurs in the cell division in Klinefelter syndrome is called as non dysjunction.

The male has XY chromosome and the female possess XX chromosome. The extra X chromosome is present in the Klinefelter syndrome and thus the chromosome structure in the Klinefelter syndrome is 47XXY.

Some people with this syndrome has extra copy of X only in certain cells and this is called as Mosaic pattern of Klinefelter syndrome


COMMON CLINICAL SIGNS AND SYMPTOMS :

  • Small, firm testicles
  • Delayed or incomplete puberty with lack of secondary sexual characteristics resulting in sparse facial, body, or sexual hair a high-pitched voice and body fat distribution resulting in a rounder, lower half of the body, with more fat deposited in the hips, buttocks and thigh instead of around the chest and abdomen
  • Breast growth (gynecomastia)
  • Reduced facial and body hair
  • Infertility
  • Tall stature
  • Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)
  • Learning disability
  • Speech delay
  • Cryptochirdism
  • Opening (meatus) of the urethra (the tube that carries urine and sperm through the penis to the outside) on the underside of the penis (hypospadias) instead of the tip of the head of the penis
  • Social, psychologic and behavioral problems 
  • Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated.[1] Some people have a slightly increased risk of developing breast cancer, a rare extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis as well as some autoimmune disorders such as systemic lupus erythematosus, rheumatoid arthritis and Sjogren's syndrome.[2][4]
  • Some people with features of Klinefelter syndrome have more than one extra X chromosome in each cell (such as 48,XXXY or 49,XXXXY). In these cases, known as "variants of Klinefelter syndrome", the signs and symptoms can be more severe and may include.
  • Intellectual disability
  • Distinctive facial features
  • Skeletal abnormalities
  • Poor coordination
  • Severe speech difficulties
  • Behavioural problems
  • Heart defects
  • Teeth problems.

 

Small, firm testicles

Delayed or incomplete puberty with lack of secondary sexual characteristics resulting in sparse facial, body, or sexual hair a high-pitched voice and body fat distribution resulting in a rounder, lower half of the body, with more fat deposited in the hips, buttocks and thigh instead of around the chest and abdomen

Breast growth (gynecomastia)

Reduced facial and body hair

Infertility

Tall stature

Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)

Learning disability

Speech delay

Crypthochirdism

Opening (meatus) of the urethra (the tube that carries urine and sperm through the penis to the outside) on the underside of the penis (hypospadias) instead of the tip of the head of the penis

Social, psychologic and behavioral problems 

Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated. Some people have a slightly increased risk of developing breast cancer, a rare extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis as well as some autoimmune disorders such as systemic lupus erythematosus, rheumatoid arthritis and Sjogren's syndrome.

 

Some people with features of Klinefelter syndrome have more than one extra X chromosome in each cell (such as 48,XXXY or 49,XXXXY). In these cases, known as "variants of Klinefelter syndrome", the signs and symptoms can be more severe and may include:

Intellectual disability

Distinctive facial features

Skeletal abnormalities

Poor coordination

Severe speech difficulties

Behavioral problems

Heart defects

Teeth problems.
Some people with features of Klinefelter syndrome have more than one extra X chromosome in each cell (such as 48,XXXY or 49,XXXXY). In these cases, known as "variants of Klinefelter syndrome", the signs and symptoms can be more severe and may include:
 

  • Intellectual disability
  • Distinctive facial features
  • Skeletal abnormalities
  • Poor coordination
  • Severe speech difficulties
  • Behavioral problems
  • Heart defects
  • Teeth problems.

 


DIAGNOSTIC :

Karyotyping:

A karyotype is an individual's collection of chromosomes. The term also refers to a laboratory technique that produces an image of an individual's chromosomes. The karyotype is used to look for abnormal numbers or structures of chromosomes. It the chromosomal analysis of the syndrome

Amniocentesis:

A test performed during pregnancy to look for possible genetic disorders in the developing foetus. A small sample of fluid surrounding the baby (amniotic fluid) is withdrawn through a needle inserted into the uterus. This fluid contains cells shed by the foetus, which can be tested in the laboratory. Amniocentesis is typically performed when an ultrasound or maternal blood test indicates a need for more information about the foetus’s development.

 


TREATMENT AND PROGNOSIS :

  • Testosterone replacement:  About half of people with Klinefelter syndrome have low testosterone levels, which may be raised by taking supplemental testosterone. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair, and may also increase sexual desire, enlarge the testes, improve mood, self-image, and behaviour; it may also protect against osteoporosis and decrease the risks of autoimmune disease and breast cancer.
  • Breast removal or reduction surgery.
  • Educational interventions: As children, many people with Klinefelter syndrome qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps.
  • Several forms of therapy such as physical, speech, occupational, behavioral, mental health, and family therapy can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence.


PREVENTION :

Genetic testing can help to rule out the disease.

Avoid harmful exposure to chemicals or other substances during pregnancy

Prognosis:

Lifespan is not affected in the syndrome. The male and female children tends to have extra genital features when compared to others.