Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter 47XXX and 47XYY syndrome: a nationwide cohort study

摘要

BackgroundKnowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y).