Losing maleness: Somatic Y chromosome loss at every stage of a man's life

Abstract

Mosaic loss of Y chromosome (LOY) is assumed to be among the most common acquired genetic variations in elderly people. Recent studies have linked aging-related mosaic LOY to the risk of Alzheimer's disease, cancer, and early death. Here, we propose that mosaic LOY can present in men at any age. Mosaic LOY appears to be associated with disorders of sex development and Turner syndrome at birth, short stature from childhood, and spermatogenic failure at reproductive age, in addition to shortened survival after 60 years of age.