Klinefelter Syndrome and XYY in males mostly unrecognized in a large biobank study

[madman]

August 2022: Klinefelter Syndrome and XYY in males mostly unrecognized in a large biobank study

The UK Biobank is a rich source of genetic information and in a previous study, Anna Murray, Ph.D. professor of human genetics at the University of Exeter, mined the biobank to discover new phenotypes for the chromosomal disorder Turner Syndrome in women. In this new study, she and colleagues, including Ken Ong, MD, Ph.D., professor of pediatric epidemiology and a pediatric endocrinologist at the University of Cambridge, turned their attention to men. On this month’s GenePod, they discuss what they found about the male sex abnormalities Klinefelter Syndrome and XYY, including new data about the risks of adverse health outcomes.

 

[madman]

Klinefelter syndrome: going beyond the diagnosis

Klinefelter syndrome: going beyond the diagnosis (2022) Gary Butler, Umasuthan Srirangalingam, Jennie Faithfull, Philippa Sangster, Senthil Senniappan, Rod Mitchell ABSTRACT Although Klinefelter syndrome (KS) is common, it is rarely recognized in childhood, sometimes being identified with...

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