What is Klinefelter Syndrome?

klinefelter Syndrome is the presence of an extra copy of X chromosome in the males results in 47, XXY type condition in the males. The main problem of this disease is that people who are affected by this do not know about the disease unless diagnosed correctly.klinefelter-syndrome

Symptoms are very prominent and may include the muscle weakness, gigantism, poor coordination with the environment, less body hair, less interest in sex and much more. These symptoms are generally noticed during puberty. The intellectual level does not change in this disease, but there is some problem related to reading and delivering a speech.

Sign and symptoms:-

We can easily diagnose the patient with Klinefelter disease by external appearance

Physical 

  • XXY males have weaker muscles and reduced strength; they cannot do the normal physical exercises and easily get fatigue.
  • The abnormal increase in height is a very distinct character in the case of males called gigantism and the person cannot coordinate the muscles like other normal boys.
  • There are problems with reproduction system in persons with this disease, they produce less testosterone than the normal boys, less facial and body hair and broader hips.
  • Children can develop breast tissue and always in the low energy state.
  • Infertility in males, they cannot reproduce and need some reproductive assistance for normal life.
  • Low level of testosterone but a high level of LH and TSH.
  • Affected males may have autoimmune disorders, breast cancer, and osteoporosis.

Congenital and developmental 

  • Some degree of problem with speaking, learning, memory and developmental problems are present.
  • Deficits in executive functions.
  • Delayed motor development, can be treated by occupational therapy.
  • Academicals suffering during schooling and with sports.

Cause 

There is the presence of extra chromosome X, due to nondisjunction event in mother and father during meiosis 1 or gametogenesis. In this case, the X or Y or two X chromosomes fail to separate producing a sperm with an X and a Y chromosome or an egg with two X chromosomes. Fertilization of the egg with this sperm produces an XXY offspring.

Diagnosis 

  • Prenatal diagnosis
  • A first clinical feature generally is seen in childhood or in the puberty like lack of secondary sexual characters.
  • Tall stature condition called gigantism.
  • Analysis of chromosome karyotypes in the lymphocytes, presence of Barr bodies can be a useful tool in the diagnosis of the disease.
  • We can also analyze the karyotypes by dermal fibroblast or testicular tissue.
  • Lab diagnosis for the presence of LH and FSH.
  • Amniocentesis – prenatal sex determination.

Treatment 

There is no complete treatment of this disease, one can cut down the symptoms by some therapies and medication like for more masculine character and person can take testosterone pills.

Hormone therapy in some can be useful for the desired result like in the case of osteoporosis.

One of the most common symptoms of the disease is the presence of breast in the males it can be treated by surgical removal of the breasts.

Behavioral therapy for children can be done to regain their position in school and in competitive sports.

Leave a Reply

Your email address will not be published. Required fields are marked *