Recognition of Genital Differences Among 47XXY Infants

Individuals with KS have a highly varied phenotype comprising a range of physical features, however, genital differences are rarely reported as characteristics feature of the syndrome in childhood. Clinicians need to be aware of the phenotypic variability of KS and recognize KS as one of the causes of abnormal genitalia at birth. This finding, along with appropriate genetic counselling, suggest that early detection of KS is important in monitoring potential development problems; such as hypogonadism, gynecomastia and gender dysphoria in the future.

The X Chromosome: Sex-specific Effects in Infectious Disease

While the X Chromosome Inactivation process in humans is not yet fully understood, studies of human aneuploidy indicate that in a diploid human cell there is always just one active X chromosome in either sex. In Turner syndrome, individuals have only one sex chromosome (one X chromosome, X0) which is kept active, while in males with Klinefelter syndrome (XXY) one X chromosome is silenced. This suggests that the human XCI mechanisms protect one X chromosome while inactivating all others.

Remembering Fred Diener

The XXY community mourns the passing of Fred Diener an XXY trailblazer of San Diego, California, who died on the 23rd of October, aged sixty-five years. Long before KS&A (AXYS) Fred was a pioneer for the XXY community running a support group for Southern California and featured in several news articles of that era about living with XXY.

U.N Human Rights Council to Investigate Violations and Abuses Against Intersex Persons.

The Vienna Declaration states that human rights are universal, indivisible, interdependent and interrelated. The VDPA makes clear that “every person is born equal and has the same rights to life and welfare, education and work, living independently and active participation…