Turner syndrome epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Akash Daswaney, M.B.B.S[2]

Overview

The incidence rate of Turner syndrome is 1 of 2500 live births. Turner Syndrome patients have a higher mortality rate compared to the general population.

Epidemiology

  • The incidence rate of Turner syndrome is in 1 of 2500 live births. [1]
  • 45 XO is the most common karyotype followed by mosaicism.
  • Studies have shown that 30 percent of the time, Turner syndrome remains undiagnosed till adolescence. Therefore, it’s true prevalence rate cannot be estimated. "Turner Syndrome - StatPearls - NCBI Bookshelf".
  • The prenatal prevalence is much higher than the postnatal prevalence and the intrauterine mortality rate is higher when compared to the patients of the same age.
  • Turner syndrome patients have a higher mortality rate when compared to the general population. [2]
  • Approximately 98% of all fetuses with Turner syndrome spontaneously abort. Turner syndrome accounts for about 10% of the total number of spontaneous abortions in the United States.

References

  1. Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J (2018). "A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment". Intractable Rare Dis Res. 7 (4): 223–228. doi:10.5582/irdr.2017.01056. PMC 6290843. PMID 30560013.
  2. Gravholt CH (2005). "Clinical practice in Turner syndrome". Nat Clin Pract Endocrinol Metab. 1 (1): 41–52. doi:10.1038/ncpendmet0024. PMID 16929365.

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