The behavioural profile of children aged 1–5 years with sex chromosome trisomy (47,XXX , 47,XXY , 47,XYY )

Children with SCT have an increased risk of suboptimal neurodevelopment. Previous studies have shown an elevated risk for neurobehavioral problems in individuals with SCT. However, not much is known about neurobehavioral problems in very young children; knowledge that could help with early identification of children at risk for suboptimal development, and that could help establish targets for early intervention.

COVID19 Journals: The lived experience of the Genetic, Undiagnosed and Rare Disease Community

A collaborative research project between Australian Genomics,Murdoch Children's Research Institute (MCRI)& Genetic Support Network of Victoria (GSNV) Do you have a Genetic, Undiagnosed or Rare Disease?Do you care for someone with a Genetic, Undiagnosed or Rare Disease?Are you part of…

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.

Exogenous Testosterone is not a requirement of 47XXY’s at Mini and Pre‑Puberty

The hypothalamus–pituitary–gonadal axis (HPG) during mini-puberty in boys with KS has been evaluated by several investigative groups and “all” possible results recorded: above normal, below normal or indistinguishable from normal (Aksglaede, Petersen, Main, Skakkebæk, & Juul, 2007; Lahlou, Fennoy, Ross,…

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.