UK BIOBANK STUDY ON XXY KS & 47,XYY HEALTH OUTCOMES

⚫️ "Detection and characterization of male sex chromosome abnormalities in the UK Biobank Study"

Based on an exceptionally large sample of genetic and health data including over 200,000 men extracted from the UK Biobank, this 2022 study confirms for the first time what many leading researchers have long suspected: that the “natural history” of the wide range of lifetime health risks of individuals with an extra 47th X chromosome (also called Klinefelter syndrome, KS or 47,XXY) is virtually the same in diagnosed and undiagnosed adults.

The paper also brings new and surprising light to health risks of individuals with an extra 47th Y chromosome (generally referred to as 47,XYY). It shows that - apart from hypogonadism and infertility challenges - 47,XYY adults not only are subject the same full spectrum of all other largely preventable health risks affecting 47,XXY adults, but also at similar and sometimes higher levels. Yet only 1 out of 100 or less individuals with an extra Y are ever diagnosed during their lifetime.

Authors: Yajie Zhao, Eugene J. Gardner, Marcus A. Tuke, Huairen Zhang, Maik Pietzner, Mine Koprulu, Raina Y. Jia, Katherine S. Ruth, Andrew R. Wood, Robin N. Beaumont, Jessica Tyrrell, Samuel E. Jones, Hana Lango Allen, Felix R. Day, Claudia Langenberg, Timothy M. Frayling, Michael N. Weedon, John R.B. Perry, Ken K. Ong, Anna Murray.

Publication: Genetics in Medicine, 2022. doi: https://doi.org/10.1016/j.gim.2022.05.011.

1098-3600/Crown Copyright 2022. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.

Keywords: #47,XYY #DisordersOfSexualDevelopment #Endocrinology #KlinefelterSyndrome #Thrombosis #Type2Diabetes

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