A Rare Breed

Tells the story of Rob Wilson a Tasmanian Chicken and Pig breeder who also happens to be XXY. Rob was born with two complete sets of male and female gonads and was operated on as a child so they would present more male like in appearance. With the assistance of fertility treatments he went on to 'father' children and by all accounts has lived successfully in that role.

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.

The Lived Experience of 47XXY (Klinefelter Syndrome): A Narrative Review of the Literature

This narrative review suggests that a lack of or late diagnosis remains a critical problem in relation to KS. Whilst prenatal screening techniques may improve future diagnosis, current low levels of diagnosis remain problematic, particularly for the possibility of improving physical and mental health outcomes. This is particularly important as those with KS are reported to have poorer health outcomes than the general population across a range of measures, including quality of life and comorbidities result in a decreased life expectancy for those with the disorder. The perception that all persons with KS will demonstrate “textbook” signs is viewed as compromising the ability of patients to obtain a diagnosis

Sex-by-Sequencing Reveals the First Two Species of Marine Mammals with XXY Chromosomes

Genetic sex determination assays assume that individuals are either XY males or XX females, which can be false at the level of phenotype or genotype. At the phenotypic level, intersex individuals with gonads, sex hormones, or genitalia that do not conform to the definitions of male or female sex characteristics have been documented across a growing number of taxa, including fish, amphibians, reptiles, and mammals