Biology

Genetic risk factors for Venous Thromboembolism associated with Klinefelter Syndrome

by onevoice47xxy24/05/202004/10/2020

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

by onevoice47xxy17/05/202023/10/2020

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.

Diagnosing Sex Chromatin: A Binary for Every Cell

by onevoice47xxy12/05/202004/08/20202 Comments

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…

Human Sex Chromosome Swapping Occurs More Often Than Previously Thought

by onevoice47xxy05/04/202009/05/20201 Comment

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,…

History of The Research on Sex Determination

by onevoice47xxy27/02/202005/04/2020

Since the beginning of humanity, people were fascinated by sex and intrigued by how the differences between sexes are determined. Ancient philosophers and middle age scholars proposed numerous fantastic explanations for the origin of sex differences in people and animals.…

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

by onevoice47xxy05/02/202020/03/2020

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…

Cognitive and Neurological Aspects of Sex Chromosome Variations

by onevoice47xxy03/02/202029/07/2020

Sex chromosome variations (SCV) are characterised by an atypical variation in the number or function of sex chromosomes. They are some of the most common genetic differences in human beings, and include 47 XXY; one in six hundred live births,…

The Promises and Pitfalls of Sex Difference Research

by onevoice47xxy01/02/2020

It's been hypothesised that XXY's are biological females dressed in male clothing, that being so we ask you keep in mind when reading how an XXY experience might have greater similarity to females than males, of course none of this…

NHS in Disarray with Dispensing Hormones

by onevoice47xxy26/01/202026/01/20202 Comments

Given the treatment of XXY individuals is (questionably) a sub speciality of Endocrinology it is envisaged that XXY's regardless of how they identify their gender would be exposed to the same difficulties experienced by GD and Trans Individuals.If you are…

Chromosome Numbers During Cell Division

by onevoice47xxy25/01/202004/03/2020

https://www.youtube.com/watch?v=gcz1FOWw0Cg Confused with how chromosome numbers change in mitosis and meiosis? The Amoeba Sisters walk you through the mystery of chromosome and chromatid counting in mitosis and meiosis.

Advocacy + Peer Support

Reach Out is Australia’s leading online mental health organisation for young people and their parents. Our practical support, tools and tips help young people get through anything from everyday issues to tough times – and the information we offer parents makes it easier for them to help their teenagers, too.

YOUth & I seeks to encourage young intersex people to share their own stories, short essays, reflections, poems, cartoons, drawings – really, anything that can be printed! We want to hear from intersex young people everywhere about their experiences, hopes, fears and dreams.

Re-imagine Today is co-designed with people living with mental health issues. Many of those involved have lived experience of the NDIS and have used this experience to help you better understand how it all works

Intersex Peer Support Australia is a peer support, information and advocacy group for people born with variations in sex characteristics and their families.

Intersex Head To Health is a digital Mental Health resource by the Australian Government connecting you with some of Australia’s most trusted Mental Health organisations. It brings together apps, online programs, online forums, and phone services, as well as a range of digital information resources.

Parents of Gender Diverse Children provides peer support to Parents and those parenting Trans and Gender Diverse children. They realise that parents who are well supported are better able to support their children.

Intersex Human Rights Australia promote human rights, health and bodily autonomy. Their goals are to help create a society where intersex bodies are not stigmatised, and where our rights as people are recognised. They build community, evidence, capacity, and education and information resources.

Kids Helpline is Australia’s only free, private and confidential 24/7 phone and online counselling service for young people aged 5 – 25

The Pinnacle Foundation provides multi-year educational scholarships and mentoring support to young adults (between the ages of 17 and 26) across Australia where their sex characteristics have prevented or hindered the achievement of their career aspirations or personal development. Scholarships include a case component and support from a mentor.

Flourish Australia: Being part of the Flourish Australia family is a great way to make new friends, try new things and get more involved with your local community. Connect with us to start feeling less isolated.

Rape and Domestic Violence Services Australia We provide nationwide counselling and support for people impacted by domestic and family violence.

Other Chromosome Variations

46 XX(y) Phenotypically there are three groups of sex-reversed 46,XX individuals. The first classical group includes phenotypically normal XX males, while the second and third groups consist of those with varying forms of genital ambiguity.

48 XXYY is a chromosomal variation that causes infertility, developmental and behavioural issues, as well as other health problems

48,XXXY often compared with 47,XXY because of shared features including tall stature and hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY are associated with additional physical findings, congenital differences, medical problems and psychological features.

Musculoskeletal Differences Among XXXXY Data was collected from an international cohort of XXXXY’s over 10 years indicating the necessity for comprehensive multidisciplinary treatment.

Educational Resources

Diversitywise Educational Services provides curriculum, pedagogy and professional development services to early learning centres and schools.

Speech & Language Development Australia is the nation’s peak body supporting and advocating for the needs of children and young people with speech, language and related differences.

A Podcast Initiative by The National Consistent Collection of Data on School Students with Disability, to assist in learning more about development issues

Brain Facts dot Org
shares the stories of scientific discovery and the knowledge they reveal. Join them as they explore the universe between our ears. Because when we know our brains, we know ourselves.

Executive dysfunction and relation with behavioral problems .These findings suggest that executive dysfunction may be part of the phenotype of children with an extra X chromosome, impacting the ability to function adequately in everyday life.