Prevalence, Incidence, Diagnostic Delay, and Mortality in Turner Syndrome

Our aim was to study prevalence, incidence, age at diagnosis, and mortality in Turner syndrome (TS) in Denmark.

Using the Danish Cytogenetic Register, we identified all cases (n = 781) of TS alive in Denmark during 1970-2001. Sixty-nine deceased women with TS were identified in the Causes of Death Register. We divided the cohort into women having the karyotype 45,X, karyotypes including an isochromosome Xq, and all other karyotypes associated with TS. We describe the number of patients diagnosed in Denmark yearly, incidence rates, and the age at diagnosis. Standardized mortality ratios (SMR) were calculated.