Klinefelter (XXY )Syndrome - Causes , Symptoms

                                  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.

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