Genetic risk factors for Venous Thromboembolism associated with Klinefelter Syndrome

The tendency towards thromboembolism is a serious complication related to Klinefelter's Syndrome. Some KS patients may suffer from VTE in the form of deep vein thrombosis or pulmonary embolism, or both while others may complain of recurrent venous ulcers. The primary cause of this increased risk of VTE in KS patients is not clearly understood and so this has encouraged scientists to look for the cause and whether it is an outcome of an underlying genetic susceptibility, hormonal disturbances, or both.

Shifting Syndromes: Sex Chromosome Variations and Intersex Classifications

Original work on Turner syndrome included only women, but a number of published articles identified similar symptom clusters in male individuals. Original work on Klinefelter’s syndrome included only men. Significantly, Klinefelter (1986) always maintained that individuals with this syndrome cluster were unproblematically phenotypic males ‘and should never be considered otherwise’ . However, genetic science in the 1950s would significantly change the classification of individuals with diagnoses of Turner or Klinefelter’s syndromes.

Fertility Rates Among Non-Mosaic XXY; At Odds With Real Life Experience

Klinefelter syndrome (KS) is the one of the most frequent chromosomal disorder affecting 1/500–600 male newborns in the general population. The vast majority of the cases shows the 47,XXY karyotype, although mosaicism (46,XY/47,XXY) or higher-grade X aneuploidies can be rarely…