Turner syndrome epidemiology and demographics

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

↑ 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.
↑ 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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[pmid30560013-1] 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.

[pmid16929365-2] 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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