diease

Klinefelter Syndrome


Klinefelter Syndrome overview and Definition

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


Clinical signs & 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.

 


Differential Diagnosis

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.

 


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.