What was earmarked as the demise of 47XXY and other sex chromosome variations has hit a major snag and one it will undoubtedly find difficult to recover from. A heartbroken woman has launched a multi-million-dollar class action against one of…
Read More Class action launched against Monash IVF over non-invasive embryo testing
It should go without saying how precision medicine is paramount for XXY's especially given we are genotypical females and how standard pharmacology designed for males does not always adhere to the type of expected outcomes and in some instances not…
Read More Covid Has Proven The New Frontier of Medicine is Precision
Image: National Cancer Institute An artificial intelligence (AI) network developed by Google AI offshoot DeepMind has made a gargantuan leap in solving one of biology’s grandest challenges — determining a protein’s 3D shape from its amino-acid sequence. DeepMind’s program, called…
Photo credit: Babatunde OlajideLekki - Ikoyi Link Bridge, Nigeria. Although seldom reported, variances in Klinefelter’s Syndrome are only rare in the sense they are rarely reported. Usually this type of variant is documented as Androgen Insensitivity (AIS) and mostly because…
Klinefelter syndrome (KS) is a sex chromosome variation caused by the presence of one or more supernumerary X chromosomes. Common clinical phenotypes of KS are comprised of tall stature with a feminine body type, gynecomastia, small testes and infertility. Cases…
Read More Recognition of Genital Differences Among Some 47XXY Infants
Klinefelter syndrome (KS) is the most common sex-chromosome variation among males, with an estimated prevalence of 1:660 newborns. The most common karyotype is the classic 47,XXY, which accounts for the 80–90% of all cases. It is a consequence of a…
Read More Evidence For Long Noncoding RNA Up-regulation in 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.
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.
In 1949, Canadian anatomist Murray Barr announced the discovery of a peculiar entity in the cell nucleus that was present in females and absent in males. The identity of this entity remained uncertain for a decade even though Barr hypothesised…
It turns out that the rigid "line in the sand" over which the human sex chromosomes -- the Y and X -- go to avoid crossing over is a bit blurrier than previously thought. Contrary to the current scientific consensus,…
Read More Human Sex Chromosome Swapping Occurs More Often Than Previously Thought
