Klinefelter (XXY )Syndrome - Causes , Symptoms

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                                  Klinefelter Syndrome



This disorder is occurred due to the presence of additional presence of X chromosomes resulting in 44+ XXY type chromosome complement. This defect is due to the fusion of female gamete  ( A + XX ) with normal sperm (A+Y ) or normal egg (A+X ) with abnormal  ( A + XY). So these patients have 47 chromosomes instead of 46.  Generally the ratio of this disorder maybe  1 in 500 people.  The patients of this disorder have a high FSH hormone level and low androgen levels. Also, the chances of breast cancer and osteoporosis are increasing too much in males.

Discovery -  The disorder is discovered by H. F. Klinefelter in 1942.
Klinefelter syndrome symptoms

Symptoms -
  •            Infertility

  •           Abnormal development of gonads

  •          Mental retardedness

  •        Hypogonadism ( error in the development of testes )

  •         Gynecomastia ( female-like breast )

  •         Weak bone development

  •          High pitch voice (just like females )

  •          Low energy level  

                 
                 
Diagnosis -  Karoytype diagnosis is a must in the diagnosis of KS. The presence of Barr's body confirms KS in males.

You may also like -  Jacob Syndrome  

                       

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