Published in:
01-02-2006 | Original Article
Klinefelter’s syndrome and juvenile chronic arthritis
Authors:
Laura J. Mirkinson, Ronald Ceruti, Ildy M. Katona
Published in:
Clinical Rheumatology
|
Issue 1/2006
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Excerpt
Klinefelter’s syndrome (KS) is the most common disorder of sexual differentiation in males and the most common disorder of sex chromosomes in humans. In KS, primary male hypogonadism is caused by developmental testicular defects due to the presence of two or more X-chromosomes. The classic karyotype for KS is 47XXY, but the mosaic form, 46XY/47XXY occurs in about 10% of cases. Other extreme variants such as 48XXYY, 48XXXY, and 49XXXXY also exist. It is estimated that the frequency of KS is about 1/500 at conception and 1/1000 at birth due to in utero fetal loss. …